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- Title
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder--implications of a copy number variation involving DPP10.
- Authors
Annisa Shui Lam Mak; Annie Ting Gee Chiu; Gordon Ka Chun Leung; Christopher Chun Yu Mak; Yoyo Wing Yiu Chu; Gary Tsz Kin Mok; Wing Fai Tang; Kelvin Yuen Kwong Chan; Mary Hoi Yin Tang; Elizabeth Tak-Kwong Lau Yim; Kin Wai So; Victoria Qinchen Tao; Cheuk Wing Fung; Virginia Chun Nei Wong; Uddin, Mohammed; So Lun Lee; Marshall, Christian R.; Scherer, Stephen W.; Anita Sik Yau Kan; Brian Hon Yin Chung
- Abstract
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.
- Subjects
CHINA; COMPARATIVE genomic hybridization; AUTISM spectrum disorders; PUBLIC health
- Publication
Molecular Autism, 2017, Vol 8, p1
- ISSN
2040-2392
- Publication type
Article
- DOI
10.1186/s13229-017-0136-x