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19p13.2-p13.12CNV Type: Deletion-Duplication


Largest CNV size: 3733872 bp

Statistics Box:
Number of Reports: 5



Summary Information

CNVs within this region were identified in three cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).

Additional Locus Information

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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-Duplication
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.
Duplication
Behavioral characteristics associated with 19p13.2 microdeletions.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
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
 3733872
 1
 2
 3
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 2229217
 1
 0
 1
 nebel_15_DD/ID_discovery_cases
 Cases from DECIPHER and other publications with overlapping events at the 19p13.12 locus
 16
 Cases presented with at least one of the following phenotypes: developmental delay, intellectual disability, microcephaly, or macrocephaly
 N/A
 50.00% Male
 3090000
 0
 1
 1
 trimouille_17_ID_discovery_cases
 Patients with 19p13 microduplications encompassing the NFIX gene
 9
 8/9 cases with intellectual disability; two of these cases also presented with autism spectrum disorder
 Range, 10 mos.-16 yrs.
 55.56% Male
 3088447
 0
 4
 4
 welham_15_ASD_discovery_cases
 Ten participants recruited through UNIQUE that were confirmed to have a 19p13.2 microdeletion
 10
 Diagnosis of ASD/autism based on meeting cut-off on Social Communication Questionnaire (SCQ); behavioral evaluation of cases made using the Challenging Behavior Questionnaire (CBQ), the Activity Questionnaire (TAQ), the Mood Interest and Pleasure Questionnaire Short-Form (MIPQ-S), the Repetitive Behavior Questionnaire (RBQ), and a modified version of the Sleep Questionnaire (ISQm); self-help subscale of Wessex scale used as an approximate indicator of intellectual disability.
 Range, 2-20 yrs.
 40% Male
 2070000
 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
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 nebel_15_DD/ID_discovery_cases
  N/A
 N/A
  N/A
 
 
 N/A
 trimouille_17_ID_discovery_cases
  France (n=6), UK (n=1), Italy (n=1), New Zealand (n=1)
 aCGH, array SNP
  60K array, 44K array
 
 
 qPCR, FISH
 welham_15_ASD_discovery_cases
  5 from United Kingdom, 3 from United States, 1 from Australia, 1 from Canada
 N/A
  N/A
 N/A
 N/A
 N/A

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-ISCA00002242
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 10315258
 14048994
  3733737
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003863
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11227942
 14532135
  3304194
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004629
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 12132052
 14751798
  2619747
 GRCh38
 Duplication
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case36
 5 yrs.
 F
 Developmental delay
 Developmental delay, hypotonia, suspected Haddad syndrome
 
 12586538
 14815757
  2229220
 GRCh38
 Deletion
 No
  nebel_15_DD/ID_discovery_cases-case1
 N/A
 M
 Intellectual disability and microcephaly
 DECIPHER ID 257523. Microcephaly
 Intellectual disability
 12729186
 15819190
  3090005
 GRCh38
 Duplication
 N/A
  trimouille_17_ID_discovery_cases-case1
 10 yrs.
 F
 Intellectual disability
 Case present in DECIPHER database (DECIPHER ID 2359). Birth/neonatal history: birth weight 3400 g. Developmental milestones: moderate developmental delay, especially delay in speech skills. Motor and musculoskeletal evaluation: significant joint stiffness, especially at ankles; hypermobility of elbows and hands; impaired fine motor skills and coordination; clinodactyly of the fifth fingers. Behavioral/psychiatric evaluation: described as sociable and friendly. Additional medical history: gastrointestinal motility disorders, daytime urinary incontinence; two haemangiomas localized on the center of forehead and base of right hallux. Dysmorphic features: full cheeks, arched eyebrows, hypertelorism, posteriorly rotated ears, short philtrum, large teeth with overbite, hairy forearms, broad halluces. Growth parameters: height -1 SD, weight 0 SD, head circumference -2 SD.
 Intellectual disability
 12132052
 14751739
  2619688
 GRCh38
 Duplication
 No
  trimouille_17_ID_discovery_cases-case2
 9 yrs.
 M
 Intellectual disability and ASD
 Case present in DECIPHER database (DECIPHER ID 257523). Birth/neonatal history: born at 35 weeks gestation with harmonious intrauterine growth retardation; birth weight 2090 g (17th %ile), length 41.5 cm (2nd %ile), head circumference 31 cm (15.5th %ile). Developmental milestones: severe psychomotor delay; walking at 5.5 years. Lanaguge and communication evaluation: absent speech (no language). Motor and musculoskeletal evaluation: bone age delay (estimated bone age of a few months at age of 5 years, no signs of malformation). Behavioral/psychiatric evaluation: severe behavioral disorders, including autism spectrum disorder and pica; insufficient food intake; many nocturnal awakenings. Additonal medical history: aortic hypoplasia associated with dilated cardiomyopathy. Dysmorphic features: full cheeks, arched eyebrows. Growth parameters: severe growth retardationl height -4 SD, weight -2.5 SD, head circumference -2.2 SD. Family history: one of two affected siblings from a family of four children.
 Intellectual disability
 12730559
 15819010
  3088452
 GRCh38
 Duplication
 Yes
  trimouille_17_ID_discovery_cases-case3
 16 yrs.
 M
 Intellectual disability and ASD
 Case is the brother of DECIPHER 257523. Birth/neonatal history: born at 37 weeks gestation; birth weight 3000 g (56.5th %ile), length 50 cm (81st %ile), head circumference 34.5 cm (68.5th %ile); severe neonatal feeding difficulties (gastrostomy and Nissen intervention required). Developmental milestones: severe psychomotor retardation; walking at 3 years of age. Language and communication evaluation: absent speech (no language). Motor and musculoskeletal evaluation: bilateral camptodactyly of the last four fingers. Behavioral/psychiatric evaluation: autism spectrum disorder; stereotypies. Additional medical history: feeding disorders. Dysmorphic features: unilateral cryptorchidism. Growth parameters: height -2 SD, weight -2 SD, head circumference -1.5 SD. Family history: one of two affected siblings from a family of four children.
 Intellectual disability
 12769368
 15771965
  3002598
 GRCh38
 Duplication
 Yes
  trimouille_17_ID_discovery_cases-case8
 2 yrs. 9 mos.
 M
 Intellectual disability
 Case present in DECIPHER database (DECIPHER ID 294330). Birth/neonatal history: mother smoked during pregnancy complicated by preeclampsia; born at 38 weeks gestation by vaginal delivery; birth weight 3690 g (88th %ile; +1.5 SD). Developmental milestones: delayed developmental milestones; walking at 24 months, with persistent unsteady gait thereafter; first words at 24 months, started to associate 2-3 words together at 32 months of age. Language and communication evaluation: 20-30 word vocabulary, but pronounciation was not always clear; receptive language level appeared to be better than expression abilities. Motor and musculoskeletal evaluation: unsteady gait; brachydactyly; small hands and feet with short fingers and toes. Behavioral/psychiatric evaluation: described to be very social. Additional medical history: strabismus. Dysmorphic features: upslanted palpebral fissures, epicanthic folds. Growth parameters: height -2 SD, weight 0 SD, head circumference -1.9 SD.
 Intellectual disability; Bayley Assessment performed at age of 31 months found a cognitive function equivalent to 13 months, fine motor function equivalent to 21 months, and gross motor function equivalent to 14 months.
 12233721
 14532135
  2298415
 GRCh38
 Duplication
 No
  welham_15_ASD_discovery_cases-case10
 20 yrs.
 F
 ASD
 Case met criteria for ASD using SCQ (total SCQ score of 19). Langauge and communication evaluation: 30 or more words or signs. Motor and musculoskeletal evaluation: walking independently. Behavioral/psychiatric evaluation: 15 clinically significant repetitive behaviors on RBQ; self-injurious behavior and aggressive behavior exhibited during previous month (CBQ); disruption or destruction of property (CBQ). Visual and auditory evaluation: vision reported to be normal; hearing reported to be normal. Additional medical history: ear problems, dental problems.
 Self-help category (Wessex self-help subscale): partly able.
 12898336
 14969199
  2070864
 GRCh38
 Deletion
 N/A

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-ISCA00002242
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 FDX2,MIR1181,S1PR5,RNU7-140P,MIR1238,KRI1,ILF3-DT,QTRT1,MIR638,MIR4748,MIR199A1,MIR6793,TMED1,TIMM29,RN7SL192P,MIR6886,TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,RAVER1,ICAM3,CDC37,PDE4A,KEAP1,ATG4D,CDKN2D,AP1M2,ILF3,C19orf38,YIPF2,LDLR,KANK2,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,TYK2,SLC44A2,DNM2,CARM1,SMARCA4,SPC24,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ZNF490,CACNA1A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003863
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TMEM205,PLPPR2,SWSAP1,EPOR,CCDC151,MIR7974,RN7SL833P,CNN1,ELOF1,ACP5,GAPDHP76,HNRNPA1P10,ZNF491,RNA5SP464,RNA5SP465,ZNF878,RNA5SP466,RSL24D1P8,RNA5SP467,ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,DOCK6,ANGPTL8,TSPAN16,RAB3D,CCDC159,PRKCSH,ELAVL3,ZNF653,ECSIT,ZNF627,ZNF887P,ZNF833P,ZNF823,ZNF441,ZNF440,ZNF439,ZNF69,ZNF763,ZNF433-AS1,ZNF433,ZNF844,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,RGL3,ZNF700,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004629
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A,ADGRE3
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case36
 
 
 Unknown
 
 
 RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,ZNF490,CACNA1A,ADGRE3
 
 nebel_15_DD/ID_discovery_cases-case1
 CNV validation N/A
 
 De novo
 
 
 TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3,OR10H2
 
 trimouille_17_ID_discovery_cases-case1
 
 
 Unknown
 
 
 ZNF625,RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,ZNF788P,ZNF20,ZNF625-ZNF20,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,ZNF136,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A,ADGRE3
 
 trimouille_17_ID_discovery_cases-case2
 qPCR or FISH (segregation analysis)
 
 De novo
 Multiplex
 Possibly segregated
 TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,OR10H5,OR10H1,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3,OR10H2
 
 trimouille_17_ID_discovery_cases-case3
 qPCR or FISH (segregation analysis)
 
 De novo
 Multiplex
 Possibly segregated
 MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,CCDC105,SYDE1,OR10B1P,RNU6-782P,MIR6795,EPHX3,MIR1470,RASAL3,RPL23AP2,CYP4F10P,OR10H3,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,CASP14,OR1I1,ILVBL,NOTCH3,BRD4,AKAP8,AKAP8L,WIZ,PGLYRP2,CYP4F22,CYP4F23P,CYP4F8,CYP4F3,CYP4F12,CYP4F24P,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3,OR10H2
 
 trimouille_17_ID_discovery_cases-case8
 
 
 Unknown
 
 
 RPS29P23,ZNF799,MTND2P40,MTCO1P27,MTCO2P27,MTATP6P27,PPIAP20,PGK1P2,RPL10P16,WDR83,WDR83OS,GNG14,FBXW9,SNORD41,TRIR,BEST2,MIR5684,JUNB,PRDX2,MIR6794,KLF1,MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,ZNF44,ZNF442,ZNF443,ZNF709,ZNF564,ZNF791,MAN2B1,DHPS,ASNA1,THSD8,RNASEH2A,RTBDN,DNASE2,GCDH,RPS6P25,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,ZNF563,TNPO2,HOOK2,MAST1,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,ZNF490,CACNA1A
 
 welham_15_ASD_discovery_cases-case10
 CNV validation not reported
 
 Unknown
 Unknown
 Unknown
 MIR5695,FARSA-AS1,MIR6515,RAD23A,GADD45GIP1,DAND5,LYL1,STX10,IER2,RPL12P42,MRI1,C19orf53,RN7SL619P,MIR24-2,MIR27A,MIR23A,MIR181C,MIR181D,RLN3,EEF1DP1,MIR1199,C19orf67,RN7SL231P,PTGER1,SNRPGP15,MIR639,NDUFB7,RN7SL337P,RN7SL842P,OR7A8P,OR7A2P,OR7A17,OR7A18P,OR7A3P,OR7A11P,OR7A15P,GCDH,SYCE2,FARSA,CALR,NFIX,NACC1,ZSWIM4,NANOS3,CC2D1A,PODNL1,DCAF15,RFX1,IL27RA,PALM3,MISP3,SAMD1,PRKACA,ASF1B,LINC01841,LINC01842,ADGRE5,PKN1,GIPC1,DNAJB1,CLEC17A,ZNF333,ADGRE2,OR7A5,OR7A10,OR7A1P,SLC1A6,TRMT1,CCDC130,C19orf57,ADGRL1,DDX39A,TECR,OR7C1,OR7C2,CACNA1A,ADGRE3
 

Controls

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