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Xq13.1-q21.1CNV Type: Duplication


Largest CNV size: 10000000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A maternally-inherited duplication encompassing this region was identified in a multiplex ASD family with two male patients diagnosed with autistic disorder and severe intellectual developmental disorder (SIDD) (Wentz et al., 2013).

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
A case report of two male siblings with autism and duplication of Xq13-q21, a region including three genes predisposing for autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type

No Minor Reports

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 wentz_13_ASD_discovery_cases
 Male siblings with a maternally-inherited Xq13-q21 duplication presenting with autistic disorder and additional phenotypes
 2
 Both cases met criteria for autistic disorder following neuropsychiatric evaluation and were further evaluated using the Autism Behavior Checklist (ABC); both cases also met criteria for severe intellectual developmental disorder (SIDD)
 Range, 16-21 yrs. (ages at last evaluation)
 Male
 10000000
 0
 2
 2

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 wentz_13_ASD_discovery_cases
  Sweden
 Array SNP
  Affymetrix 250K NspI
 
 
 MLPA

Controls

No Control Data Available

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  wentz_13_ASD_discovery_cases-case1
 21 yrs. (age of last evaluation)
 M
 ASD
 Case met criteria for autistic disorder following neuropsychiatric evaluation at age of 6.5 years; total score of 85 (score >67 considered to indicate autism with "high probability") on the Autism Behavior Checklist (ABC). Birth/neonatal history: born at 38 weeks after pregnancy complicated by decreased fetal movements; birth weight -2 SD, length -2 SD; Apgar scores of 6, 6, and 9 at 1, 5, and 10 minutes; required hospitalization during first 6 months of life with nasogastric tube feeding due to feeding problems and poor weight gain; hypotonic and inactive as an infant; sagittal craniosynostosis diagnosed at age of 2 months (reconstructive surgery at 6.5 months with secondary surgery at 3.5 years). Developmental milestones: developmental delay noted during first few months of life; walked at age of 3 years; no development of communicative language. Language and communication evaluation: never developed any communicative language. Motor and musculoskeletal features: right femoral and iliac artery thrombosis that later produced leg length discrepancy; small hyperextensible joints, thin hands and feet with short halluces. Behavioral/psychiatric evaluation: hyperactivity from age of 2 years; stereotypies, narrow interests, and difficulty interacting with peers noted at age of 5.5 years; exhibited poor social interaction, had no peers, made contact by slapping other children, avoided eye contact, routines and rituals that, when interrupted, would result in temper tantrums; developed severe self-mutilative behavior at age of 13 years. Epilepsy/seizures: developed seizures that persisted follwoing reconstructive surgery at age of 6.5 months. Brain imaging: CT scan at 11 months showed small frontal parenchymal defect; reassessment at age of 6.5 years showed left frontal pathology, indicated status post infarction or haemorrhagia interpreted as secondary to childhood asphyxia. Other features: diagnosis of hypopituitarism. Dysmorphic features: small ears with prominent crus and underdeveloped tragus, elliptical face characterized by bilateral ptosis, epicanthus inversus, highly marked eyebrows, wide medial parts of the eyebrows situated far above the eyes, blepharophimosis, floating forehead, broad nasal base and tip, smooth philtrum, full upper and lower lips, small pits and skin dimples situated around joints. Growth parameters: persistent short staure; height at age of 21 years of 157 cm (-3.5 SD). Family history: affected brother with autistic disorder (wentz_13_ASD_discovery_cases-case2); healthy sister; father with short stature (-3.1 SD); mother with hypothyreosis (treated with Levaxin) and bilateral hearing impairment (wears hearing aids). Karyotype: paternally-inherited pericentric inversion on chromosome 9 at p11;q13.
 Case met criteria for severe intellectual developmental disorder (SIDD)
 70980843
 80851526
  9870684
 GRCh38
 Duplication
 Yes
  wentz_13_ASD_discovery_cases-case2
 16 yrs. (age of last evaluation)
 M
 ASD
 Case met criteria for autistic disorder following neuropsychiatric evaluation at age of 6 years; total score of 64 (corresponding to "borderline autism") on the Autism Behavior Checklist (ABC). Birth/neonatal history: born at 37 gestational weeks after pregnancy complicated by decreased fetal movements; birth weight -1 SD, birth lenght -1.5 SD; feeding problems and poor weight gain; sagittal craniosynostosis observed post-natally (reconstructive surgery at 5 months of age). Developmental milestones: developmental delay observed in first few months after birth; walkng at age of 2 years; no development of communicative language. Language and communication evaluation: never developed communicative language. Motor and musculoskeletal evaluation: tapering fingers. Behavioral/psychiatric evaluation: started showing interest in spinning toys and watching washing machine at age of 14 months; developed severe sleeping problems that persisted at age of 3.5 years; poor social interaction, exhibited poor eye contact, stereotypies, severe hyperactivity, self-mutilation, fascination with spinning wheels, temper tantrums, no concept of danger. Brain imaging: normal brain CT scan. Other features: nocturnal diuresis that persisted throughout childhood; reached puberty at age of 12 years; received treatment with growth hormone from age of 11 months until 9 years of age due to persistent short stature; low testosterone levels. Dysmorphic features: brachycephaly, elliptical face, highly marked eyebrows, wide medial parts of the eyebrows situated far above the eyes, ptosis, broad nasal base and tip, small ears with prominent crus, micrognathia, full upper and lower lips, small pits and dimples around elbows, knees, and shoulders. Growth parameters: persistent short stature; height of 150 cm (-4.2 SD) at age of 16 years; delayed bone age. Family history: affected brother with autistic disorder (wentz_13_ASD_discovery_cases-case1); healthy sister; father with short stature (-3.1 SD); mother with hypothyreosis (treated with Levaxin) and bilateral hearing impairment (wears hearing aids). Karyotype: paternally-inherited pericentric inversion on chromosome 9 at p11;q13.
 Case met criteria for severe intellectual developmental disorder (SIDD)
 70980843
 80851526
  9870684
 GRCh38
 Duplication
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 wentz_13_ASD_discovery_cases-case1
 MLPA
 
 Maternal
 Multiplex
 Segregated
 NUTF2P7,RNU1-56P,SOCS5P4,FOXO4,IL2RG,INGX,CXCR3,LINC00891,CXorf49,CXorf49B,RNU6-1078P,RPS26P11,RTL5,RN7SL388P,RNU2-68P,RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,PABPC1L2B-AS1,PABPC1L2B,PABPC1L2A,NAP1L6,NAP1L2,TOMM20P4,YWHAZP8,RNU6-1044P,MORF4L1P6,RPL7P53,SEPHS1P4,RPSAP14,UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,BUD31P2,RNU6-562P,RPL21P134,PCNPP4,BRAFP1,MAGEE2,SAR1AP4,PBDC1,RNU6-867P,LDHBP2,MAGEE1,RNA5SP508,TRAPPC13P1,MIR384,MIR325,RNA5SP509,SPRYD7P1,FGF16,FABP5P15,RNU6-854P,RN7SL460P,PGAM4,HMGN1P34,UBE2V1P7,RTL3,PPATP2,LPAR4,RPL7P54,MIR4328,CTHRC1P1,KIF4CP,HNRNPH3P1,HK2P1,SNX12,CXorf65,MED12,NLGN3,GJB1,ZMYM3,NONO,GCNA,RPS4X,CITED1,PHKA1-AS1,DMRTC1B,FAM226B,CDX4,XIST,FXYD6P3,DDX3P1,RAB11FIP1P1,RLIM,UPRT,TTC3P1,COX7B,TAF9B,FNDC3CP,CYSLTR1,P2RY10,P2RY10BP,ITM2A,TBX22,CHMP1B2P,TAF1,OGT,NHSL2,PIN4,ERCC6L,PHKA1,DMRTC1,MAP2K4P1,CHIC1,TSIX,JPX,FTX,BMP2KL,NEXMIF,ABCB7,MIR325HG,MAGT1,ATP7A,PGK1,GPR174,TENT5D,ITGB1BP2,HDAC8,SLC16A2,ATRX,BRWD3,ZDHHC15
 
 wentz_13_ASD_discovery_cases-case2
 MLPA
 
 Maternal
 Multiplex
 Segregated
 NUTF2P7,RNU1-56P,SOCS5P4,FOXO4,IL2RG,INGX,CXCR3,LINC00891,CXorf49,CXorf49B,RNU6-1078P,RPS26P11,RTL5,RN7SL388P,RNU2-68P,RNU1-112P,FAM236B,FAM236D,FAM236C,FAM236A,PABPC1L2B-AS1,PABPC1L2B,PABPC1L2A,NAP1L6,NAP1L2,TOMM20P4,YWHAZP8,RNU6-1044P,MORF4L1P6,RPL7P53,SEPHS1P4,RPSAP14,UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,BUD31P2,RNU6-562P,RPL21P134,PCNPP4,BRAFP1,MAGEE2,SAR1AP4,PBDC1,RNU6-867P,LDHBP2,MAGEE1,RNA5SP508,TRAPPC13P1,MIR384,MIR325,RNA5SP509,SPRYD7P1,FGF16,FABP5P15,RNU6-854P,RN7SL460P,PGAM4,HMGN1P34,UBE2V1P7,RTL3,PPATP2,LPAR4,RPL7P54,MIR4328,CTHRC1P1,KIF4CP,HNRNPH3P1,HK2P1,SNX12,CXorf65,MED12,NLGN3,GJB1,ZMYM3,NONO,GCNA,RPS4X,CITED1,PHKA1-AS1,DMRTC1B,FAM226B,CDX4,XIST,FXYD6P3,DDX3P1,RAB11FIP1P1,RLIM,UPRT,TTC3P1,COX7B,TAF9B,FNDC3CP,CYSLTR1,P2RY10,P2RY10BP,ITM2A,TBX22,CHMP1B2P,TAF1,OGT,NHSL2,PIN4,ERCC6L,PHKA1,DMRTC1,MAP2K4P1,CHIC1,TSIX,JPX,FTX,BMP2KL,NEXMIF,ABCB7,MIR325HG,MAGT1,ATP7A,PGK1,GPR174,TENT5D,ITGB1BP2,HDAC8,SLC16A2,ATRX,BRWD3,ZDHHC15
 

Controls

No Control Data Available
No Animal Model Data Available
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