Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 .

Autor:	Mak ASL; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong, Special Administrative Region, China., Chiu ATG; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Leung GKC; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Mak CCY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Chu YWY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Mok GTK; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Tang WF; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Chan KYK; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China., Tang MHY; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Lau Yim ET; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., So KW; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Tao VQ; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Fung CW; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China., Wong VCN; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China., Uddin M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada., Lee SL; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China., Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Canada., Kan ASY; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong, Special Administrative Region, China., Chung BHY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Department of Obstetrics and Gynaecology, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Duchess of Kent Children's Hospital, Hong Kong, Special Administrative Region, China.
Jazyk:	angličtina
Zdroj:	Molecular autism [Mol Autism] 2017 Jun 26; Vol. 8, pp. 31. Date of Electronic Publication: 2017 Jun 26 (Print Publication: 2017).
DOI:	10.1186/s13229-017-0136-x
Abstrakt:	Background: Array 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. Methods: DNA 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. Results: Ten 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 (arr[GRCh37] 2q14.1(116534689_116672358)x3), 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. Conclusions: The 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.
Databáze:	MEDLINE
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