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Molecular Autism

, 8:31

First Online: 26 June 2017Received: 09 February 2017Accepted: 08 April 2017


BackgroundArray comparative genomic hybridization aCGH is recommended as a first-tier genetic test for children with autism spectrum disorder ASD. However, interpretation of results can often be challenging partly due to the fact that copy number variants CNVs in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD.

MethodsDNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature.

ResultsTen pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3′ exons of DPP10 arrGRCh37 2q14.1116534689 116672358x3, reported to be associated with ASD, was identified in one patient 0.39%. The same CNV was reported as variant of uncertain significance VUS in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6-653 0.92% as well as from literature and genomic databases.

ConclusionsThe DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings.

KeywordsCopy number variations CNVs Autism spectrum disorder ASD Array comparative genomic hybridization aCGH Chinese DPP10 AbbreviationsaCGHArray comparative genomic hybridization

ADIRAutism diagnostic interview-revised

ADHDAttention deficit hyperactivity disorder

ASDAutism spectrum disorder

ADOSAutism diagnostic observation schedule

CARSChildhood autism rating scale

CNVCopy number variation

Ctthreshold cycle

DSMDiagnostic and statistical manual of mental disorders

GDDGlobal developmental delay

IDIntellectual disability

qPCRquantitative polymerase chain reaction

SNPsSingle nucleotide polymorphisms

TYHTsan Yuk Hospital

VUSVariant of uncertain clinical significance

Electronic supplementary materialThe online version of this article doi:10.1186-s13229-017-0136-x contains supplementary material, which is available to authorized users.

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Autor: Annisa Shui Lam Mak - Annie Ting Gee Chiu - Gordon Ka Chun Leung - Christopher Chun Yu Mak - Yoyo Wing Yiu Chu - Gary 


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