chung_11_ASD_discovery_cases-proband

  Chung BH , et al. 2011

 12

 F

 ASD

 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.

 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)

 39378072

 39529434

  151363

 GRCh38

 Duplication

 No

  davis_12_ASD_discovery_cases-case1

  Davis LK , et al. 2012

 12 yrs.

 M

 Autism

 Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.

 Vineland adaptive behavior scale, 98 (45th %ile).

 39403008

 39512239

  109232

 GRCh38

 Duplication

 No

  girirajan_13b_ASD_discovery_cases-31906106492

  Girirajan S , et al. 2013

 N/A

 N/A

 Autism

 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

 N/A

 39196480

 39500604

  304125

 GRCh38

 Deletion

 No

  girirajan_13b_ASD_discovery_cases-32505103937

  Girirajan S , et al. 2013

 N/A

 N/A

 Autism

 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

 N/A

 39332733

 39702779

  370047

 GRCh38

 Deletion

 No

  krumm_13_ASD_discovery_cases-case11716.p1

  Krumm N , et al. 2013

 N/A

 M

 ASD

 ASD proband from SSC quad family 11716. SRS score of 90.

 Full-scale IQ (FSIQ) score of 49.

 38232994

 38260121

  27128

 GRCh38

 Deletion

 No (not tested)

  krumm_15_ASD_discovery_cases-case11716.p1

  Krumm N , et al. 2015

 N/A

 Male

 ASD

 Proband from the Simons Simplex Collection (SSC). Family type: Quad

 

 38232994

 38260121

  27128

 GRCh38

 Deletion

 Yes

  leblond_12_ASD_replication_cases-Pintocase5237_3

  Leblond CS , et al. 2012

 NA

 M

 Autism

 Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.

 Below average non-verbal IQ (<1st %ile)

 39375220

 39520881

  145662

 GRCh38

 Homozygous duplication

 No

  levy_11_ASD_discovery_cases-11039.p1

  Levy D , et al. 2011

 NA

 M

 ASD

 NA

 NA

 39316702

 39325095

  8394

 GRCh38

 Deletion

 Yes

  tabet_12_ASD_discovery_cases-patient1

  Tabet AC , et al. 2012

 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

 39380149

 39520881

  140733

 GRCh38

 Deletion

 No

  tabet_12_ASD_discovery_cases-patient2

  Tabet AC , et al. 2012

 17 yrs. 6 mos.

 M

 Autism

 Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother 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.

 Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile

 39380149

 39520881

  140733

 GRCh38

 Deletion

 No

  girirajan_13b_ASD_discovery_controls-10905103688

  Girirajan S , et al. 2013

  N/A

  N/A

  Control

  Ethnicity: Hispanic

  N/A

  39366151

  39737304

  371154

  GRCh38

  Deletion

  No

  girirajan_13b_ASD_discovery_controls-20308109922

  Girirajan S , et al. 2013

  N/A

  N/A

  Control

  Ethnicity: Hispanic

  N/A

  39163064

  39500604

  337541

  GRCh38

  Deletion

  No

  girirajan_13b_ASD_discovery_controls-23004100677

  Girirajan S , et al. 2013

  N/A

  N/A

  Control

  Ethnicity: Caucasian

  N/A

  39298930

  39601563

  302634

  GRCh38

  Deletion

  No

  poultney_13_ASD_discovery_controls-control04C29638A

  Poultney CS , et al. 2013

  N/A

  M

  Control

  NIMH Control (NIMH ID 45390)

 

  36784411

  36833659

  49249

  GRCh38

  Duplication

  No