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3q13.2-q13.31CNV Type: Deletion


Largest CNV size: 4500000 bp

Statistics Box:
Number of Reports: 6



Summary Information

De novo deletion identified in a male patient with autism and severe intellectual disability (Wisniowiecka-Kowalnik et al., 2012)

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic...
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Deletion
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurre...
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 5224527
 2
 0
 2
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 3670000
 1
 0
 1
 molin_12_DD/ASD_discovery_cases
 14 novel patients carrying microscopic or submicroscopic deletions in the 3q12.3-q21.3 region, and 1 previously reported 3q-deletion patient (Ogilvie et al. 1998).
 15
 Developmental delay present in 13/15 cases; 5/15 cases with attention deficits; 3/15 cases with autism.
 Range, 1 yr. 6 mos.-19 yrs. 6 mos.
 66.67% Male
 2790000
 4
 0
 4
 quintela_15_ASD/ID/anxiety_discovery_cases
 Eldest of two children born to a non-cansanguineous couple of European descent (mother was 36 years old and father was 35 at time of birth), with a family medical history including two maternal great-aunts with idiopathic intellectual disability and a maternal cousin with infantile cerebral palsy due to delivery problems.
 1
 Diagnosis of autistic disorder based on ADI-R and ADOS evaluation; co-morbid diagnosis of Anxiety Disorder Not Otherwise Specified based on semi-structured psychiatric interview K-SADS-PL; cognitive and linguistic abiltiies assessed through Leiter International Performance Scale-Revised and Peabody Picture Vocabulary Test-III
 9 yrs.
 Female
 3370000
 1
 0
 1
 shuvarikov_13_DD/ID/ASD_discovery_cases
 Nine patients with 3q13.2-q13.31 deletions; 4 patients ascertained by Signature Genomics Laboratories, 2 ascertained by Baylor College of Medicine (BCM) Medical Genetics Laboratories, and 1 patient each ascertained by Nemours Children's Clinic (Orlando, FL), Brigham and Women's Hospital (Boston, MA), and ARUP Laboratories (Salt Lake City, UT).
 9
 All patient exhibited motor and language delays, as well as hypotonia. Cognitive delay present in 8/9 patients; abnormal behaviors (including stereotypic behaviors, sensory issues, and aggression) present in 7/9 patients; 2 patients with diagnoses of pervasive developmental disorder, 1 patient diagnosed with ASD (high-functioning autism).
 Range, 16 mos.-42 yrs.
 44.4% Male
 3400000
 9
 0
 9
 wisniowiecka-kowalnik_12_ASD_discovery_cases
 ASD patients from 132 simplex and 13 multiplex families of Polish descent
 145
 Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
 Range, 3-26 yrs.
 84.83% Male
 4500000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 molin_12_DD/ASD_discovery_cases
  NA
 aCGH, array SNP
  Affymetrix GeneChip 250K Nsp, Affymetrix 6.0, 1 Mb clone array, Agilent 400K, Agilent 44K, BlueGnome CytoChip V2, SpectralChip CC4-V0.3
 
 
 FISH
 quintela_15_ASD/ID/anxiety_discovery_cases
  European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 shuvarikov_13_DD/ID/ASD_discovery_cases
  N/A
 aCGH, array SNP
  Signature ChipOS 105K, Signature ChipOS 135K, GenomeDx v1.0 44K, BCM CMA 105K v7.4, BCM CMA 180K v8.1, Affymetrix CytoScan HD 2.7M SNP array
 
 Genoglyphix (SignatureChip platforms)
 FISH, long-range PCR
 wisniowiecka-kowalnik_12_ASD_discovery_cases
  Polish
 aCGH
  OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
 
 BCM web-based software, custom-designed IMiD-web2py software
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000786
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 112168829
 117393356
  5224528
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002600
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 112479482
 115774102
  3294621
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown149
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 112433753
 116104532
  3670780
 GRCh38
 Deletion
 No
  molin_12_DD/ASD_discovery_cases-case10
 13 yrs. 7 mos.
 F
 Developmental delay
 DECIPHER ID: NA. Birth parameters: weight (g), 3480 (50-85th %ile); length (cm), 50 (50-85th %ile); OFC (cm), 36.5 (99th %ile). Delayed speech: no. Behavioral problems: hyperphagia. Hypotonia: no. Brain/CNS abnormalities: none reported. Skull abnormalities: none reported. Skeletal abnormalities: small hands. Other malformations: none reported. Eye abnormalities: no. Dysmorphic features: none reported. Growth parameters: weight (kg), 84.5 (obese); height (cm), 173 (97-99th %ile); OFC (cm), 54.5 (50th %ile).
 Developmental delay
 112563111
 115228413
  2665303
 GRCh38
 Deletion
 Yes
  molin_12_DD/ASD_discovery_cases-case11
 12 yrs. 4 mos.
 M
 Developmental delay
 DECIPHER ID: NA. Birth parameters: weight (g), 3485 (50th %ile); length (cm), 52 (85th %ile); OFC (cm), 37 (97th %ile). Delayed speech: yes. Behavioral problems: none reported. Hypotonia: none reported. Brain/CNS abnormalities: none reported. Skull abnormalities: none reported. Skeletal abnormalities: none reported. Other malformations: none reported. Eye abnormalities: strabism. Dysmorphic features: prominent/broad forehead, epicanthal folds, hypertelorism. Growth parameters: weight (kg), 42; height (cm), 154 (50-75th %ile); OFC (cm), 58 (97th %ile).
 Developmental delay
 112563111
 115228413
  2665303
 GRCh38
 Deletion
 Yes
  molin_12_DD/ASD_discovery_cases-case12
 9 yrs.
 M
 Developmental delay and attention deficits
 DECIPHER ID: NA. Birth parameters: weight (g), 3200 (50th %ile); length (cm), 40; OFC (cm), NA. Delayed speech: yes. Behavioral problems: attention deficits. Hypotonia: no. Brain/CNS abnormalities: none reported. Skull abnormalities: none reported. Skeletal abnormalities: pes planus with enlarged base and flexion of trunk. Other malformations: crowded teeth, paresis of VII cranial nerve, micropenis, cryptorchidism. Eye abnormalities: strabism. Dysmorphic features: high-arched palate, low-set ears. Growth parameters: weight (kg), 46.9 (>99th %ile); height (cm), 142 (95th %ile); OFC (cm), 57.9 (>97th %ile).
 Developmental delay
 113288678
 115063041
  1774364
 GRCh38
 Deletion
 No
  molin_12_DD/ASD_discovery_cases-case9
 10 yrs. 6 mos.
 M
 Developmental delay
 DECIPHER ID: 4673. Birth parameters: weight (g), 3850 (85th %ile); length (cm), 51 (50-85th %ile); OFC (cm), 35 (50-85th %ile). Delayed speech: yes. Behavioral problems: none reported. Hypotonia: none reported. Brain/CNS abnormalities: none reported. Skull abnormalities: none reported. Skeletal abnormalities: small hands, short tapering fingers, proximal set thumbs. Other malformations: bilateral cryptorchidism. Eye abnormalities: none reported. Dysmorphic features: large voluminous ears. Growth parameters: weight (kg), 46 (97th %ile); height (cm), 148.7 (85-95th %ile); OFC (cm), 53.5 (50th %ile).
 Developmental delay
 112479282
 115264826
  2785545
 GRCh38
 Deletion
 Yes
  quintela_15_ASD/ID/anxiety_discovery_cases-case1
 9 yrs.
 F
 ASD, ID, and anxiety disorder
 Diagnosis of autistic disorder based on ADI-R and ADOS evaluation at age of 8 years and 8 months [ADI-R scores were 30 on Social Interaction (cutoff score of 10), 12 on Communication and Language (cutoff score of 7), and 6 on Restricted and Repetitive Behaviors (cutoff score of 3); co-morbid diagnosis of Anxiety Disorder Not Otherwise Specified based on semi-structured psychiatric interview K-SADS-PL at age of 8 years and 8 months. Birth/neonatal history: born after uneventful pregnancy without remarkable prenatal/perinatal data; delivery was programmed (due to low fetal weight in last week of gestation) and prolonged; Apgar scores of 7-9 at 1-5 minutes; birth weight of 2670 g (17th %ile); generalized hypotonia present at birth. Developmental milestones: delayed motor skills (walking started at 15-18 months with subsequent gross motor clumsiness); no babbling; first words at approximate age of 12 months, vocabulary consisted of a few basic words; delayed language development with complete loss of language ar around age of 3 years; presented with stereotyped movements (flapping) at age of 3 years. Language and communication evaluation: lack of oral receptive language; evaluation of receptive language through Peabody Picture Vocabulary Test-III showed Verbal Mental Age of 3 years and 2 months; limited comprehension of spoken language; production of speech sounds recently increased. Motor and musculoskeletal evaluation: severe gross and fine motor clumsiness. Behavioral/psychiatric evaluation: very anxious and withdrawn with very limited response to social interaction; improvement in some specific aspects of social behavior over time (e.g. eye contact, emotional control, intentional communication with mother); restricted interests currently focused on watching cartoons on TV; severe sleep disturbances; compulsive eating behaviors. Brain imaging: brain MRI revealed small corpus callosum, suggesting possible absence of splenium, at age of 4 years 8 months. Dysmorphic features: none. Growth parameters: weight 90th %ile at 9 years of age; weight of 16.4 kg (10th %ile) and head circumference of 52 cm at afe of 4 years 8 months. Family history: eldest of two children born to a non-cansanguineous couple of European descent (mother was 36 years old and father was 35 at time of birth); family medical history included two maternal great-aunts with idiopathic intellectual disability and a maternal cousin with infantile cerebral palsy due to delivery problems.
 Non-verbal IQ of 65 (Leiter International Performance Scale-Revised), corresponding to developmental age of 3 years, at chronological age of 8 years and 8 months
 112425234
 115795585
  3370352
 GRCh38
 Deletion
 No
  shuvarikov_13_DD/ID/ASD_discovery_cases-case1
 8 yrs.
 F
 Developmental delay
 Birth/neonatal history: pregnancy complicated by mild preeclampsis and fetal echogenic bowel with some type of renal abnormalitiy (renal and abdominal ultrasounds at birth were normal); initially evaluated at 6 months for hypotonia and motor delay. Developmental milestones: gross motor delays; normal speech development (albeit with some stuttering). Language and communication evaluation: stuttering, speech therapy given to improve articulation. Motor and musculoskeletal evaluation: mild-moderate hypotonia, patellar reflexes +1 bilaterally, joint laxity in fingers, flat feet, lumbar lordosis. Behavioral/psychiatric evaluation: anxiety, short attention span. EEG: normal at 3 years; slowing and spikes in right temporal lobe and 8 years. Brain imaging: brain MRI normal at 3 years. Vision and hearing: myopia (wears glasses); reportedly good hearing. Dysmorphic features: bitemporal indentation, bilateral ptosis, down-slanting palpebral fissures, telecanthus, broad nasal bridge, slightly long philtrum, thickened maxillary alveolus, prominent full lower lip, broad and somewhat flat face. Growth parameters: height, weight, and head circumference >95th %ile (head circumference +2.1 SD). Family history: born to non-consanguineous parents; family history is significant for ADHD in the father and maternal family history of mild intellectual disability (ID).
 Developmental delay, but no definitive cognitive problems
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case2
 3 yrs.
 M
 Developmental delay
 Birth/neonatal history: uncomplicated pregnancy; delivery at 41 weeks by emergency C-section due to nuchal cord (no resuscitation required during delivery); neonatal period complicated by difficulty latchin and weight loss; failure to achieve milestones apparent in infancy. Developmental milestones: significant delays in motor development (rolled over at 8 months, sat at 1 year, stood at 20 months, walked just after 30 months); speech delays (first specific words at about 3 years). Motor and musculoskeletal evaluation: generalized hypotonia, requires ankle orthotics for walking; bilateral pes planus. Behavioral/psychiatric evaluation: some stereotypic behaviors and sensory issues; generally happy but becomes easily frustrated and can display some aggression. Vision and hearing: strabismus. Dysmorphic features: dolicocephaly, palpable metopic ridge, down-slanting palpebral fissures, epicanthal folds, broad nasal bridge, small chin, myopathic facies with prominent lower lip, tiny inverted nipples. Growth parameters: height >95th %ile, weight 75th %ile, head circumference 75th %ile at 3 years. Family history: born to unrelated parents.
 Developmental delay
 N/A (112138807 or 112138859)
 N/A (115514746 or 115514798)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case3
 9 yrs. 8 mos.
 F
 ASD and developmental delay
 Diagnosed with high-functioning autism and moderate developmental delay. Birth/neonatal history: normal prenatal ultrasound; pregnancy complicated by maternal fainting spells from 6 months onward, a motor vehicle accident at 7 months gestation, anemia, and gestational diabetes at end of pregnancy; delivery by emergency C-section; Apgar scores of 2 and 9; brief resuscitation required, but breathing well at five minutes of age; marked hypotonia and slow eater as baby. Developmental milestones: toilet trained at 5.5 years of age. Motor and musculoskeletal evaluation: relatively low tone, requires ankle-foot orthotics to stabilize gait, significant scoliosis when bending over. Behavioral/psychiatric evaluation: behavior previoulsy included head banging and echolalia (now resolved), used to play alone and do a lot of hand flapping, posturing, and self-stimulatory behaviors, currently very social and outgoing. Epilepsy/seizures: history of seizures, for which she has not required medication. EEG: normal. Brain imaging: agenesis of corpus callosum on brain MRI. Additional medical history: experienced mutliple stroke-like episodes before age of 2, resulting in facial asymmetry, clumsiness, and loss of skills; obstructive sleep apnea and disordered sleep, encopresis, constipation, urinary retention. Vision and hearing: strabismus (wears glasses); hyperacusis. Dysmorphic features: deep-set eyes, mild ptosis, down-slanting palpebral fissures, relatively long nsoe with bulbous tip, dental crowding, broad alveoar ridge. Growth parameters: height 25th-50th %ile, weight 25th-50th %ile, head circumference 50th-75th %ile. Family history: born to 19-year-old mother and unrelated 22-year-old father; family history significant for ASD in a younger sister who does not have 3q13.2-13.31 deletion.
 Moderate developmental delay
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case4
 3 yrs. 4 mos.
 M
 PDD
 Diagnosed with pervasive developmental disorder (PDD). Birth/neonatal history: during pregnancy, mother was prescribed insulin and sertraline due to type II diabetes, depression, and anxiety and smoked one pack of cigarettes per day; delivery by C-section due to oligohydramnios and fetal distress; newborn required oxygen and dopamine during stay in NICU; cardiac ultrasound revealed patent ductus ateriosus, which spontaneously closed; head CT, performed due ot plagiocephaly at 11 months, was normal. Developmental milestones: marked developmental delay. Language and communication evaluation: unable to talk. Motor and musculoskeletal evaluation: unable to walk, generalized hypotonia. Dysmorphic features: small nose with depressed nasal bridge and bulbous tip, anteverted nares, hypertelorism, asymmetric palpebral fissures, downturned mouth, prominent upsweep of hair, supernumerary left nipple. Growth parameters: head circumference 75th %ile at 15 months of age. Family history: born to unrelated couple; family history significant for maternal relatives with developmental delay and autism.
 Cognitive development at 35 months of age was evaluated as equivalent to a 4-month-old.
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case5
 16 mos.
 M
 Developmental delay
 Birth/neonatal history: mother reported no problems during pregnancy, although ultrasound at 19 weeks yielded soft markers for possible chromosome abnormality, while no specific structural abnormalities were noted; delivery by C-section due to breach presentation and was complicated by nchal cord; required surgical repair of left cryptorchidism. Developmental milestones: global developmental delay. Language and communication evaluation: makes consonant sounds but has no words. Motor and musculoskeletal evaluation: mild generalized hypotonia; muscle biopsy at 16 months showed non-specific mild-moderate type 2 myofiber atrophy; patellar reflexes +1 bilaterally. Epilepsy/seizures: no evidence of seizures. EEG: normal. Brain imaging: slight Chiari malformation on brain MRI. Vision and hearing: normal. Additional medical history: history of chronic constipation. Dysmorphic features: prominent forehead, epicanthal folds, down-slanting palpebral fissures, protruding full lower lip, slightly hidden upper eyelids, broad nasal bridge. Growth parameters: length 95th %ile, weight 20th %ile, head circumference 99th %ile (+2.3 SD) at 16 months of age. Family history: born to 33-year-old mother and 36-year-old father; three healthy older siblings.
 Global developmental delay
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case6
 42 yrs.
 F
 Developmental delay
 Birth/neonatal history: placental calcifications noted at birth (consistent with placental insufficiency), marginally small for dates, developed large angioma in right shoulder, which had delayed involution; nystagmus in first few months of life. Developmental milestones: delayed motor milestones (sitting at 15 months, walking at 3 years); delayed language (only two words at age of 3 years) with rapid language acquisition thereafter; normal receptive language abilities. Motor and musculoskeletal evaluation: visual motor difficulty, decreased tone; normal Babinski sign; pes cavus, hyperextensibility, dysdiadochokinesia. Behavioral/psychiatric evaluation: social and emotional immaturity and enuresis by school age. Additional medical history: neurological exam consistent with cerebellar agenesis; BEAM testing consistent with epileptic frontal focus. Dysmorphic features: ruddy complexion, absent eyebrows, thin hair, bilateral ptosis, epicanthal folds, down-slanting palpebral fissures, horizontal nystagmus, sluggish and reactive pupils, inferior nares in a cleft pattern, microstomia with a report of small introitus, small teeth, large palatine tori, dorsocervical fat pad, bilateral middle finger clinodactyly. Growth parameters: height and weight in 20th %iles at age of 14 years; height in 10th-25th %ile, head circumference in 50th-75th %ile, and obese habitus at age of 42 years.
 Mild-moderate developmental delay and intellectual impairment (verbal IQ of 94 and performance IQ of 61 by school age)
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 No
  shuvarikov_13_DD/ID/ASD_discovery_cases-case7
 16 yrs.
 F
 Intellectual disability
 Birth/neonatal history: only documented complication during pregnancy was oligohydramnios. Developmental milestones: delay in language and speech development. Motor and musculoskeletal evaluation: normal strength, decreased tone, normal reflexes, abnormal gait with toe-ing and a hitch in left hip without normal arm swing; asymmetric shoulders with mild pectus excavatum, cervical kyphosis, ulnar deviation of the hands, hypothenar hypoplasia, 5th finger clinodactyly, gap betwen 1st and 2nd toes bilaterally. Dysmorphic features: rounded face, small mandible, high scalp hairline, flat zygomatic arches, absent eyebrows, deep-set eyes, mild eversion of lateral lower eyelids, mild right ptosis, narrow nasal bridge with pointed nasal tip, short philtrum with thin upper lip and full lower lip, crowded teeth, absent axillary hair. Growth parameters: height 50th %ile, weight 50th %ile, head circumference 98th %ile.
 Intellectual disability
 N/A (112138807 or 112138859)
 N/A (115514746 or 115514798)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case8
 10 yrs.
 M
 Developmental delay
 Birth/neonatal history: delivered at term by spontaneous vaginal delivery; Apgar scores of 7 and 9; no neonatal complications, normal newborn screen; surgical repair of left hydrocele; no nutritional problems. Developmental milestones: delays in all motor milestones (late in holding head up without support, rolled over at 9 months, crawled at 15 months, walked at 23 months); started speaking after 3 years of age, continued speech delay. Motor and musculoskeletal evaluation: particularly low muscle tone and strength, normal reflexes. Behavioral/psychiatric evaluation: sensory integration issues, constant hand washing, and nocturnal enuresis continuing into school age. Epilepsy/seizures: multiple seizures occurred a few hours after falling and hitting back of head at age of about 20 months, has had at least one subsequent seizure episode. Brain imaging: head CT indicative of probable benign communicating hydrocephalus and benign enlargement of the subarachnoid spaces. Vision and hearing: farsightedness. Additional medical history: renal ultrasound showed absence of left kidney and compensatory enlargement of right kidney. Dysmorphic features: prominent and broad forehead with frontal bossing, small deep-set eyes with inner epicanthal folds, down-slanting palpebral fissures, mild hypertelorism, high palate. Growth parameters: head size of 53.5 cm (95th %ile), height and weight near mean at 4 years of age; height of 149.4 cm (95th %ile) and weight of 40.7 kg (75th-90th %ile) at 10 years of age. Family history: born to 32-year-old mother and unrelated 33-year-old father; family history significant for paternal second cousin with autism.
 Functions approximately 2-3 grade levels below age level
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 Yes
  shuvarikov_13_DD/ID/ASD_discovery_cases-case9
 5 yrs.
 F
 PDD
 Diagnoses of pervasive developmental disorder (PDD) and mixed receptive and expressive language disorder at age of 3 years. Birth/neonatal history: delivered vaginally at 29 weeks, subsequently hospitalized for 10 days. Developmental milestones: 2-month global developmental delay up until 9 months of age, which by 2 years of age progressed to a 6-8 month delay; no developmental regression; motor delays (began rolling at 6 months, crawling at 8 months, walking between 16 months and 2 years, running by 26 months) and language delays (babbling at 16 months, first words at 2 years, 6 words but was not connecting them at 27 months). Language and communication evaluation: diagnosis of mixed receptive and expressive language disorder. Motor and musculoskeletal evaluation: modest hypotonia, deep tendon reflexes present but not as brisk in lower extremities as compared to normal upper extremities, persistent intermittent toe-walking. Behavioral/psychiatric evaluation: did not meet full criteria for autism. Brain imaging: brain MRI at 3 years of age showed agenesis of corpus callosum. Vision and hearing: normal hearing. Dysmorphic features: broad face with normally positioned eyes (inner canthal distance at 80th %ile), epicanthal folds, esotropia, large ears, modest depression of nasal bridge, modest retrognathia. Growth parameters: head size of 49.5 cm (90th %ile), height of 91.4 cm (90th %ile), and weight of 14.6 kg (95th %ile) at age of 27 months. Family history: born to unrelated parents, unremarkable family history.
 Pervasive developmental disorder/global developmental delay
 N/A (between 112138686-112140025)
 N/A (between 115514625-115515964)
  3400000
 GRCh37
 Deletion
 Yes
  wisniowiecka-kowalnik_12_ASD_discovery_cases-patient1
 6
 M
 Autism
 Atypical autism, agenesis of corpus callosum, delayed myelination of CNS, hypothyroidism, muscle hypotonia, delayed somatic development with asthenic body build, and poor subcutaneous tissue
 Severe intellectual disability (ID)
 111635852
 116171454
  4535603
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000786
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,LSAMP-AS1,RN7SL582P,BZW1P2,MIR4447,LINC00901,RNU5E-8P,PTMAP8,CD200,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,LINC00903,TUSC7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,SLC9C1,BOC,TIGIT,LSAMP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002600
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,BOC,TIGIT
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown149
 
 
 Unknown
 Unknown
 Unknown
 OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,BOC,TIGIT,LSAMP
 
 molin_12_DD/ASD_discovery_cases-case10
 FISH
 
 De novo
 Unknown
 Unknown
 MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,BOC,TIGIT
 
 molin_12_DD/ASD_discovery_cases-case11
 FISH
 
 De novo
 Unknown
 Unknown
 MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,BOC,TIGIT
 
 molin_12_DD/ASD_discovery_cases-case12
 
 
 De novo
 Unknown
 Unknown
 MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,TIGIT
 
 molin_12_DD/ASD_discovery_cases-case9
 FISH
 
 De novo
 Unknown
 Unknown
 OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,BOC,TIGIT
 
 quintela_15_ASD/ID/anxiety_discovery_cases-case1
 
 
 De novo
 
 
 OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,BOC,TIGIT
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case1
 FISH, long-range PCR
 
 De novo
 Unknown
 Possibly segregated
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case2
 FISH, long-range PCR
 
 De novo
 Unknown
 Possibly segregated
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case3
 FISH, long-range PCR
 
 De novo
 Multiplex (younger sister with ASD)
 Not segregated (for ASD)
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case4
 FISH, long-range PCR
 
 De novo
 Unknown
 Possibly segregated
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case5
 FISH, long-range PCR
 
 Unknown (not maternal)
 Simplex
 Unknown
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case6
 
 
 De novo
 Unknown
 Possibly segregated
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case7
 Long-range PCR
 
 Unknown
 Unknown
 Unknown
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case8
 FISH, long-range PCR
 
 De novo
 Unknown
 Possibly segregated
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 shuvarikov_13_DD/ID/ASD_discovery_cases-case9
 FISH, long-range PCR
 
 De novo
 Unknown
 Possibly segregated
 BTLA,ATG3,SLC35A5,CCDC80,CD200R1L,CD200R1,GTPBP8,C3orf17,BOC,WDR52,SPICE1,SIDT1,KIAA2018,NAA50,ATP6V1A,GRAMD1C,ZDHHC23,KIAA1407,QTRTD1,DRD3,ZNF80,TIGIT,ZBTB20,GAP43
 
 wisniowiecka-kowalnik_12_ASD_discovery_cases-patient1
 FISH
 
 De novo
 Unknown
 Possibly segregated
 PLCXD2-AS1,RFKP2,MIR567,TBILA,OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,ABHD10,TAGLN3,C3orf52,GCSAM,CD200,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,CD96,PLCXD2,PHLDB2,TMPRSS7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,SLC9C1,BOC,TIGIT,LSAMP
 

Controls

No Control Data Available
No Animal Model Data Available
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