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Xq27.3-q28CNV Type: Deletion


Largest CNV size: 254081 bp

Statistics Box:
Number of Reports: 7



Summary Information

A maternally-inherited deletion containing the FMR1 gene that segregated with disease was identified in an autistic proband from a multiplex family.

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         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
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Deletion-Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 12678948
 0
 3
 3
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 254081
 1
 0
 1
 husson_20_ASD_discovery_cases
 A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
 253
 Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
 N/A
 81.4% Male
 3778728
 1
 0
 1
 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
 10136144
 3
 0
 3
 nagamani_12_DD_discovery_cases
 Cases with developmental delay and additional phenotypes with CNVs involving the FMR1 gene.
 4
 All 4 cases with developmental delay (DD) and language delay. 2/4 cases with behavioral abnormalities.
 Range, 5-12 yrs.
 25% Male
 363000
 1
 2
 3
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 622720
 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)
 
 620000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 254081
 0
 0
 0
 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
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 husson_20_ASD_discovery_cases
  France
 aCGH
  Agilent 180K
 
 
 WES
 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
 nagamani_12_DD_discovery_cases
  1 Caucasian, 1 South Asian, 2 unknown
 aCGH
  Custom-designed array manufactured by Agilent and designed in Medical Genetics Laboratory at BCM
 
 
 qPCR
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 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
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  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
  chaves_19_ASD/DD/ID_discovery_cases-case24
  NA NA
 N/A
 M
 Developmental delay
 Developmental delay, speech and/or language delay or impairment, facial dysmorphism and obesity. Family history: affected brother with same phenotype and Xq27.3-q28 duplication.
 
 147344117
 152436515
  5092399
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case25
  NA NA
 N/A
 M
 Developmental delay
 Developmental delay, speech and/or language delay or impairment, facial dysmorphism and obesity. Family history: affected brother with same phenotype and Xq27.3-q28 duplication.
 
 147337292
 152436515
  5099224
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case305
  NA NA
 N/A
 M
 Developmental delay and intellectual disability
 Obesity, congenital anomalies, developmental delay, intellectual disability, facial dysmorphism and cutis marmorata. Karyotype: 46, XY, add(X)(p22).
 Intellectual disability
 143324486
 156003433
  12678948
 GRCh38
 Duplication
 No
  griswold_12_ASD_discovery_cases-case18072
 NA
 NA
 ASD/autism
 NA
 NA
 147787231
 148041310
  254080
 GRCh38
 Deletion
 Yes
  husson_20_ASD_discovery_cases-case394
 24 yrs.
 F
 ASD and intellectual disability
 Diagnosis of ASD
 Intellectual disability
 145817829
 149596556
  3778728
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000205
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 146896288
 149621145
  2724858
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 145879711
 156022206
  10142496
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005129
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 147151996
 150364798
  3212803
 GRCh38
 Deletion
 Yes
  nagamani_12_DD_discovery_cases-case1
 5 yrs.
 F
 Developmental delay
 Birth/neonatal history: born at 40 weeks gestation, normal growth parameters at birth, unremarkable perinatal history. Developmental milestones: delayed speech development (1st words at 2 years); normal gross and fine motor developmental milestones. Language and communication: delays in expressive language; normal speech reception. Behavioral abnormalities: temper tantrums. Epilepsy/seizures: none. Brain imaging: NA. Dysmorphic features: epicanthal folds, up-slanting palpebral fissures, high-arched palate. Other features: none. Growth parameters: height, 50th %ile; weight, 50th %ile; OFC, 50th %ile. X-chromosome inactivation (XCI; allele A:B ratio): random (41:59). Family history: second child of non-consanguineous parents with unremarkable family history.
 Developmental delay
 147707513
 148070742
  363230
 GRCh38
 Duplication
 Yes
  nagamani_12_DD_discovery_cases-case2
 5.5 yrs.
 F
 Developmental delay
 Birth/neonatal history: delivered at 40 weeks gestation by C-section; immediate perinatal perios complicated by meconium aspiration syndrome that did not require any form of mechanical ventilation. Developmental milestones: delayed language and motor milestones (1st words by 20 months; sat unsupported by 9 months, stood by 16 months, walked by 18 months). Langauge and communication: expressive speech continued to be delayed at 5.5 years (evaluated as appropriate for a 3.5-year-old). Behavioral abnormalities: none. Epilepsy/seizures: none. Brain imaging: mild Chiari type I malformation observed by brain MRI. Dysmorphic features: none. Other features: syndactyly, urinary tract abnormalities. Growth parameters: height, >95th %ile; weight,>95th %ile; OFC, NA. X-chromosome inactivation (XCI; allele A:B ratio): random (76:34).
 Developmental delay
 147796927
 148144967
  348041
 GRCh38
 Duplication
 Yes
  nagamani_12_DD_discovery_cases-case3
 5 yrs.
 M
 Developmental delay
 Birth/neonatal history: born at 35 weeks gestation by C-section; antenatal history of mother complicated by uncontrolled hypertension. Developmental milestones: significant language delay (no words at 4 years of age); motor delay (sitting at 9 months, walking by 2 years). Behavioral abnormalities: none. Epilepsy/seizures: none. Brain imaging: prominent trigones observed by brain MRI. Dysmorphic features: epicanthus invertus, relatively large ears. Other features: none. Growth parameters: remarkable for relative macrocephaly; height, 12th %ile; weight, 10th %ile; OFC, 75th %ile.
 Developmental delay
 147838064
 148103912
  265849
 GRCh38
 Deletion
 Yes
  oikonomakis_16_ASD_discovery_cases-case36
 8 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypotonia, antimogoloid palpebral fissures, anteverted nares
 
 147597112
 148219829
  622718
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case63
 
 M
 ASD
 Antimogoloid palpebral fissures, anteverted nares, hypotonia, ASD
 
 147597112
 148219829
  622718
 GRCh38
 Deletion
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chaves_19_ASD/DD/ID_discovery_cases-case24
 
 
 Unknown
 
 
 RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,AFF2,LINC00894
 
 chaves_19_ASD/DD/ID_discovery_cases-case25
 
 
 Unknown
 
 
 RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,AFF2,LINC00894
 
 chaves_19_ASD/DD/ID_discovery_cases-case305
 
 
 Unknown
 
 
 PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SLITRK4,HNRNPH1P2,RRM2P4,HNRNPCP10,RN7SKP189,CYCSP44,SPANXN1,SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,SPANXN2,UBE2NL,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,AFF2,LINC00894
 
 griswold_12_ASD_discovery_cases-case18072
 qPCR
 
 Maternal
 Multiplex
 Segregated
 RNU6-382P,FMR1-AS1,RNA5SP524,FMR1,FMR1-IT1,FMR1NB
 
 husson_20_ASD_discovery_cases-case394
 WES
 
 Unknown
 Familial
 Unknown
 SLITRK2,MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,HSFX3,HSFX2,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,AFF2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000205
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,AFF2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR892C,MIR890,MIR888,MIR892A,MIR892B,MIR891B,MIR891A,RNA5SP517,CXorf51B,CXorf51A,MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,PPIAP91,RNU6-383P,HMGB3,RPL19P21,RPL12P50,RNA5SP525,MIR4330,GPR50-AS1,GPR50,FATE1,CNGA2,MAGEA4,MIR224,MIR452,RPSAP60,MAGEA5,MAGEA10,RNU6-764P,MIR105-1,MIR767,MIR105-2,KRT8P8,CSAG2,MAGEA12,CSAG4,MAGEA2,CSAG3,MAGEA6,PNMA6A,PNMA6B,MAGEA1,PNMA6E,RN7SL667P,KRT18P48,RPL18AP16,RN7SL687P,SLC6A8,PLXNB3,IDH3G,CYCSP45,LCA10,AVPR2,NAA10,HCFC1-AS1,MIR3202-1,MIR3202-2,IRAK1,MIR718,EMD,SNORA70,CH17-340M24.3,GDI1,FAM50A,MIR6858,LAGE3,SLC10A3,RN7SL697P,FAM3A,FAM223A,ATF4P2,CTAG1A,CTAG1B,ATF4P1,FAM223B,IKBKGP1,CTAG2,OR3B1P,SNORA36A,MIR664B,SNORA56,HMGN1P37,H2AFB1,F8A1,MIR1184-1,CMC4,RAB39B,H2AFB2,F8A2,MIR1184-2,F8A3,MIR1184-3,H2AFB3,AMD1P2,DPH3P2,ELOCP24,TRPC6P,WASIR1,ELL2P4,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,VMA21,PRRG3,GABRE,MAGEA10-MAGEA5,GABRQ,MAGEA2B,CSAG1,NSDHL,PNMA5,PNMA3,PNMA6F,ZFP92,TREX2,BGN,ATP2B3,CCNQ,DUSP9,PNCK,BCAP31,ABCD1,SRPK3,SSR4,PDZD4,ARHGAP4,RENBP,HCFC1,TMEM187,MECP2,OPN1LW,TEX28P2,OPN1MW,TEX28P1,OPN1MW2,TKTL1,FLNA,TAZ,ATP6AP1,PLXNA3,UBL4A,IKBKG,GAB3,DKC1,SMIM9,EEF1A1P31,MTCP1,BRCC3,VBP1,SPRY3,VAMP7,IL9R,WASH6P,MAMLD1,MTM1,MTMR1,CD99L2,PASD1,MAGEA4-AS1,GABRA3,MAGEA3,CETN2,ZNF185,ZNF275,HAUS7,L1CAM,OPN1MW3,TEX28,RPL10,DNASE1L1,G6PD,MPP1,F8,FUNDC2,CLIC2,TMLHE-AS1,TMLHE,AFF2,LINC00894
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005129
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR513C,MIR513B,MIR513A1,MIR513A2,MIR506,MIR507,MIR508,MIR514B,MIR509-2,MIR509-3,MIR509-1,MIR510,MIR514A1,MIR514A2,MIR514A3,RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,RPL7L1P11,AFF2-IT1,RN7SKP267,IDSP1,CXorf40A,HSFX3,HSFX2,TMEM185AP1,HSFX1,MAGEA7P,DUTP4,MAGEA8,MIR2114,XRCC6P2,FMR1,FMR1-IT1,FMR1NB,IDS,LINC00893,MAGEA9B,TMEM185A,MAGEA11,MAGEA9,LINC00850,MAGEA8-AS1,CXorf40B,HSFX4,MAMLD1,AFF2,LINC00894
 
 nagamani_12_DD_discovery_cases-case1
 qPCR
 
 De novo
 Simplex
 Likely segregated
 RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
 
 nagamani_12_DD_discovery_cases-case2
 qPCR
 
 De novo
 Unknown
 Likely segregated
 RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
 
 nagamani_12_DD_discovery_cases-case3
 qPCR
 
 De novo
 Unknown
 Likely segregated
 FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
 
 oikonomakis_16_ASD_discovery_cases-case36
 
 
 De novo
 
 
 RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
 
 tzetis_12_DD/ID_discovery_cases-case63
 
 
 De novo
 Unknown
 
 RNU6-382P,FMR1-AS1,RNA5SP524,FTH1P8,FMR1,FMR1-IT1,FMR1NB
 

Controls

No Control Data Available
No Animal Model Data Available
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