3p13CNV Type: Deletion
Largest CNV size: 3577 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
FOXP1-related intellectual disability syndrome: a recognisable entity.
Deletion
Severe speech impairment is a distinguishing feature of FOXP1-related disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
braden_21_ASD/ADHD/DD/ID_discovery_cases
Individuals with pathogenic FOXP1 deletions that were identified in the Victorian Clinical Genetics Services database or referred by their clinician from December 2017 to May 2020.
6
All six cases presented with developmental delay, 3 presented with intellectual disability (non-verbal intelligence measured using Wechsler Abbreviated Scale of Intelligence, Second Edition), and one case each was diagnosed with autism spectrum disorder and ADHD.
Range, 2-15 yrs.
33.33% Male
821258
3
0
3
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
169
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
62633
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
537804
1
4
5
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
2459
1
0
1
le_fevre_13_DD_discovery_cases
6-year-old male patient (first-born child of non-consanguineous parents with no significant family history)
1
Global developmental delay, most notably in the area of speech and language acquisition. No behavioral problems, autistic features, developmental regression, or seizures.
6 yrs.
Male
190000
1
0
1
meerschaut_17_ID_discovery_cases
Previously unreported cases with de novo deletions affecting the FOXP1 gene
11
10/11 cases presented with intellectual disability (ID), motor delay, and delayed speech and language development, 5/11 cases presented with autistic features. One case (patient 9) died due to complications from diaphragmatic hernia at age of 5 months.
Range, 5 mos.-10 yrs.
72.72% Male
630972
5
0
5
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
104749
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
19867
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
3577
1
0
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
95220
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
83000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
132450
1
1
2
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
19867
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
3600
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
braden_21_ASD/ADHD/DD/ID_discovery_cases
Australia
CMA
NA
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
le_fevre_13_DD_discovery_cases
Caucasian
aCGH
BlueGnome 60K Oligo ISCA
BlueMulti v2.3
FISH
meerschaut_17_ID_discovery_cases
N/A
aCGH
N/A
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
braden_21_ASD/ADHD/DD/ID_discovery_cases-case22
5 yrs.
M
ASD and developmental delay
Behavioral difficulties, a diagnosis of autism spectrum disorder, sensory processing disorder, pectus carinatum, gross motor delay, fine motor delay, speech delay (first words at 15-18 months and short sentences at 4-5 years with moderate low expressive language ability, low receptive language ability, and adequate written language ability on the Vineland Adaptive Behavior Scales), moderate low social skills on the Vineland Adaptive Behavior Scales, speech articulation errors, speech phonological errors, features of dysarthria (moderate articulation deficits, moderate prosody deficits, mild resonance deficits, marked voice deficits), features of speech apraxia; the patient's father was not available for phenotypic analysis.
71096678
71473959
377282
GRCh38
Deletion
No
braden_21_ASD/ADHD/DD/ID_discovery_cases-case23
8 yrs.
F
Developmental delay and intellectual disability
Behavioral difficulties, gross motor delay, fine motor delay, speech delay (first words at >18 months and short sentences >8 years with moderate low expressive language ability and low receptive and written language abilities on the Vineland Adaptive Behavior Scales), moderate low social skills on the Vineland Adaptive Behavior Scales, speech articulation errors, speech phonological errors, features of dysarthia (marked articulation deficits, moderate prosody deficits, moderate resonance deficits, mild voice deficits), features of speech apraxia.
Mild intellectual disability (PIQ 64)
70970748
71046963
76216
GRCh38
Deletion
No
braden_21_ASD/ADHD/DD/ID_discovery_cases-case25
15 yrs.
F
ADHD, developmental delay, and intellectual disability
Visual impairment, a diagnosis of ADHD, gross motor delay, fine motor delay, speech delay (first words at 12-15 months and short sentences at 6-7 years with adequate expressive and receptive language abilities and low written language ability on the Vineland Adaptive Behavior Scales), moderate low social skills on the Vineland Adaptive Behavior Scales, speech phonological errors, features of dysarthria (moderate articulation deficits, moderate prosody deficits, moderate resonance deficits, mild voice deficits), features of speech apraxia.
Mild intellectual disability (PIQ 53)
70386554
71207811
821258
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
71753331
71753500
170
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case458
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R. Brain imaging: herniation in the occipital foramen of both cerebellar tonsils that exceeded McRae's plane by about 7 mm.
71117668
71180300
62633
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13075_893
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73032732
73075649
42918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13153_1703
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73032732
73165182
132451
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3169_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73053324
73591128
537805
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3607_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72541749
72641494
99746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9759_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73173721
73258306
84586
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258506
N/A
M
Developmental delay
Low-set posteriorly rotated ears; Abnormality of the pinna; Congenital bilateral ptosis; Myopia; Downturned corners of mouth; Curly hair; Clinodactyly of the 5th finger; Single transverse palmar crease; Sparse scalp hair; Increased laxity of fingers; Global developmental delay; Delayed speech and language development
71052793
71055252
2460
GRCh38
Deletion
No
le_fevre_13_DD_discovery_cases-case1
6 yrs.
M
Developmental delay
Birth/neonatal history: born after normal pregnancy at term by C-section; birth weight of 3.2 kg (25th %ile), length of 48 cm (25th %ile), and OFC of 36.5 cm (75th %ile); feeding problems ater successful early breastfeeding, failure-to-thrive at 11 weeks of age (resolved by introdcution of solids by 6 months); oro-motor dysfunction with excessive drooling, difficulty sipping from cup, and ongoing problems with chewing some solids. Developmental milestones: global developmental delay, most notably in the area of speech and language acquisition; first words at 17 months, 6 words at age of 2.5 years (understood approximately 50 at this age), sentences not spoken until age of 4 years 4 months; delayed motor milestones (rolled and sat unsupported at 12 months, cruised from 16 months, walking at 25 months, coarse pincer grip at 17 months; partial toilet training at 7 years, remained incontinent of urine at day and night. Langauge and communication evaluation: Severely delayed receptive and expressive language (receptive language more advanced); articulation problems included moderate-to-severe difficulty pronouncing consonants; speech not dyspraxic. Motor and musculoskeletal evaluation: occupational therapy resulted in significant improvement, but Miller Function and Participation Scales (M-FUN) motor development score at age of 7 years was in low range. Behavioral/psychiatric evaluation: no behavioral problems or autistic features. Epilepsy/seizures: none. Brain imaging: cerebral MRI at age of 16 months showed prominent ventricles, but no other abnormalities. Vision and hearing: normal. Other features: past history of moderate, well-controlled asthma. Dysmorphic features: prominent forehead, down-slanting palpebral fissures, flat malar region, short nose with broad tip, prominent digit pads, bilateral clinodactyly of 4th toes. Growth parameters: height of 115.3 cm (25th %ile), weight of 21 kg (40th %ile), and OFC of 55 cm (0.5 cm above 98th %ile) at 6.5 years of age. Family history: first-born child of non-consanguineous parents; no significant family history.
Global developmental delay
70992485
71180270
187786
GRCh38
Deletion
Yes
meerschaut_17_ID_discovery_cases-patient1
2.5 yrs.
F
Intellectual disability and autistic features
Birth/neonatal history: born at term; birth weight of 2740 g (-1.3 SD, 3rd-10th %ile), length of 47.5 cm (-0.7 SD, 3rd-10th %ile), and head circumference of 33.5 cm (-0.7 SD, 10th %ile). Developmental milestones: mild/moderate motor delay, delayed speech and language development (first words > 3 years of age), expressive language delay. Language and communication evaluation: articulation problems, poor grammar, oromotor dysfunction. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity). Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal. Ophthalmological evaluation: strabismus, hypermetropia. Additional medical history: feeding difficulties. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, bent palpebral fissures, ptosis, short nose, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, pronounced vermillion border, chin with horizontal crease, single palmar crease. Growth parameters: weight <3rd %ile, length 3rd-10th %ile, BMI 10th %ile, head circumference 25th-50th %ile.
Mild/moderate intellectual disability
70900526
71317346
416821
GRCh38
Deletion
No
meerschaut_17_ID_discovery_cases-patient12
7.5 yrs.
M
Intellectual disability
Case also present in DECIPHER database (DECIPHER ID 274063). Birth/neonatal history: born at 36 + 1 weeks with a birth weight of 2500 g (3rd %ile), length of 46 cm (3rd %ile), and head circumference of 35 cm (50th %ile). Developmental milestones: severe motor delay, delayed speech and language development, expressive language delay. Language and communication evaluation: articulation problems, poor grammar, oromotor dysfunction. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity). Additional medical history: failure to thrive, feeding difficulties; fronto-nasal angioma; subclinical hypothyroidism. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, hypertelorism, downslanting palpebral fissures, ptosis, blepharophimosis, short nose, broad nasal tip, single palmar crease, widely spaced nipples. Growth parameters: weight <3rd %ile, height <3rd %ile, BMI 25th-50th %ile; head circumference not determined.
Severe intellectual disability
70519854
71150825
630972
GRCh38
Deletion
No
meerschaut_17_ID_discovery_cases-patient13
5 yrs.
F
Intellectual disability and autistic features
Case also present in DECIPHER database (DECIPHER ID 284583). Birth/neonatal history: born at term with a birth weight of 3330 g and length of 50 cm (head circumference not determined). Developmental milestones: mild/moderate motor delay, delayed speech and language development, expressive language delay. Language and communication evaluation: articulation problems, poor grammar, oromotor dysfunction. Behavioral/psychiatric evaluation: autistic features. Brain imaging: normal. Ophthalmological evaluation: strabismus, right optic nerve hypoplasia. Additional medical history: feeding difficulies. Dysmorphic features: broad forehead, prominent forehead, frontal upsweep of hair, downslanting palpebral fissures, short nose, broad nasal tip, pronounced nasolabial folds, downturned corners of the mouth, open mouth, high palate, single upper incisor, plagiocephaly. Growth parameters: weight 25th-50th %ile, height 20th %ile, BMI 50th %ile, head circumference 25th %ile.
Mild/moderate intellectual disability
70980998
71330485
349488
GRCh38
Deletion
No
meerschaut_17_ID_discovery_cases-patient4
1.67 yrs.
M
Intellectual disability and seizures
Birth/neonatal history: born at term; birth weight of 3100 g (-1 SD, 10th-50th %ile), length of 49.5 cm (-0.5 SD, 10th-50th %ile) and head circumference of 38 cm (+2 SD, 90th-97th %ile). Developmental milestones: mild/moderate motor delay, delayed speech and language development (absent speech), expressive language delay. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia (reduced tonicity); clinodactyly, mild syndactyly II-III. Behavioral/psychiatric evaluation: behavioral difficulties. Epilepsy/seizures: seizures. Brain imaging: normal. Congenital anomalies: congenital hip dislocation. Additional medical history: failure to thrive, feeding difficulties; cholestatis, ductal paucity, fibrosis and chronic hepatitis. Dysmorphic features: broad forehead, prominent forehead, ptosis, short nose, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, pronounced vermillion border, prominent chin, chin with horizontal crease. Growth parameters: weight 25th %ile, height 10th %ile, BMI 50th %ile, head circumference 50th %ile.
Mild/moderate intellectual disability
71027879
71151006
123128
GRCh38
Deletion
No
meerschaut_17_ID_discovery_cases-patient7
3.5 yrs.
M
Intellectual disability and autistic features
Case also present in DECIPHER database (DECIPHER ID 331530). Birth/neonatal history: born at 37 weeks with a birth weight of 3670 g (> 90th %ile), length of 53 cm (> 97th %ile), and head circumference of 36.5 cm (97th %ile). Developmental milestones: mild/moderate motor delay. delayed speech and language development, expressive language delay. Behavioral/psychiatric evaluation: autistic features, behavioral difficulties. Brain imaging: abnormal. Ophthalmological evaluation: strabismus. Congenital anomalies: duplex kidneys with ureterocoele and kidney dysplasia; bilateral cryptorchidism. Dysmorphic features: broad forehead, prominent forehead, downslanting palpebral fissures, ptosis, broad nasal tip, pronounced nasolabial folds, wide mouth, full lips, pronounced vermillion border, downturned corners of the mouth, open mouth, chin with horizontal crease, facial asymmetry. Growth parameters: weight 25th-50th %ile, height 50th %ile, BMI 25th %ile, head circumference 97th %ile.
Mild/moderate intellectual disability
70684961
71048642
363682
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case116603
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
72382752
72487500
104749
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case100149
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
73146770
73157484
10715
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case122685L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
72855177
72875043
19867
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
73326151
73329728
3578
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
74053441
74148661
95221
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case71
F
DD/ID
Micrognathia, arched palate, hypermetropia, severe speech delay, heart defects
71375125
71458126
83002
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
N/A
N/A
Control
No previous psychiatric history
73200593
73238687
38095
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
N/A
N/A
Control
No previous psychiatric history
73032732
73165182
132451
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
73326151
73329728
3578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11521.s1
15.1
F
Control (matched sibling)
NA
NA
72048376
72051976
3601
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
braden_21_ASD/ADHD/DD/ID_discovery_cases-case22
Paternal
FOXP1,FOXP1-AS1
braden_21_ASD/ADHD/DD/ID_discovery_cases-case23
De novo
FOXP1
braden_21_ASD/ADHD/DD/ID_discovery_cases-case25
De novo
FOXP1,COX6CP6,HMGB1P36,SAMMSON,RNU6-281P
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
EIF4E3
cucinotta_23_ASD_discovery_cases-case458
Maternal
FOXP1
engchuan_15_ASD_discovery_cases-case13075_893
Unknown
EBLN2,PPP4R2
engchuan_15_ASD_discovery_cases-case13153_1703
Unknown
EBLN2,RNU6-557P,RNU2-64P,PPP4R2
engchuan_15_ASD_discovery_cases-case3169_4
Unknown
EBLN2,RNU6-557P,RNU2-64P,CCDC75P1,RNU6-1270P,PPP4R2,PDZRN3
engchuan_15_ASD_discovery_cases-case3607_3
Unknown
RNU1-62P
engchuan_15_ASD_discovery_cases-case9759_201
Unknown
CCDC75P1,RNU6-1270P
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258506
De novo
Simplex
Segregated
FOXP1
le_fevre_13_DD_discovery_cases-case1
FISH
De novo
Simplex
Segregated
FOXP1
meerschaut_17_ID_discovery_cases-patient1
De novo
FOXP1,FOXP1-AS1
meerschaut_17_ID_discovery_cases-patient12
De novo
COX6CP6,HMGB1P36,RNU6-281P,FOXP1
meerschaut_17_ID_discovery_cases-patient13
De novo
FOXP1,FOXP1-AS1
meerschaut_17_ID_discovery_cases-patient4
De novo
FOXP1
meerschaut_17_ID_discovery_cases-patient7
De novo
COX6CP6,HMGB1P36,RNU6-281P,FOXP1
mosca_16_DCD_discovery_cases-case116603
qPCR
Unknown
Multi-generational
Unknown
RYBP
prasad_12_ASD_discovery_cases-case100149
Unknown
Unknown
Unknown
PPP4R2
prasad_12_ASD_discovery_cases-case122685L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
tabet_12_ASD_discovery_cases-patient1
Maternal
Multiplex
Unknown
AKR1B1P2
tzetis_12_DD/ID_discovery_cases-case71
De novo
Unknown
FOXP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902641_902641
Unknown
EBLN2,RNU6-557P,RNU2-64P,PPP4R2
sanders_11_ASD_discovery_controls-11485.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11521.s1
Maternal
Simplex (quad)
NA
LINC00877
No Animal Model Data Available