Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
BACKGROUND
Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the first tier genetic testing for patients with autism spectrum disorder (ASD). In this regard, diagnostic yield of array comparative genomic hybridization (CGH) for ASD patients is determined in a cohort of Chinese patients in Hong Kong.


METHODS
A combined adult and paediatric cohort of 68 Chinese ASD patients (41 patients in adult group and 27 patients in paediatric group). The genomic DNA extracted from blood samples were analysed by array CGH using NimbleGen CGX-135K oligonucleotide array.


RESULTS
We identified 15 CNV and eight of them were clinically significant. The overall diagnostic yield was 11.8 %. Five clinically significant CNV were detected in the adult group and three were in the paediatric group, providing diagnostic yields of 12.2 and 11.1 % respectively. The most frequently detected CNV was 16p13.11 duplications which were present in 4 patients (5.9 % of the cohort).


CONCLUSIONS
In this study, a satisfactory diagnostic yield of array CGH was demonstrated in a Chinese ASD patient cohort which supported the clinical usefulness of array CGH as the first line testing of ASD in Hong Kong.
Department of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China.|Kowloon West Cluster Laboratory Genetics Service, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
Wai-Kwan
http://orcid.org/0000-0002-5644-3615
WK
Siu
Department of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China. ching-wanlam@pathology.hku.hk.
Ching-Wan
CW
Lam
Kowloon West Cluster Laboratory Genetics Service, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
Chloe Miu
CM
Mak
Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Elizabeth Tak-Kwong
ET
Lau
Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Mary Hoi-Yin
MH
Tang
Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Wing-Fai
WF
Tang
Department of Clinical Psychology, Kwai Chung Hospital, Hong Kong, China.
Rachel Sui-Man
RS
Poon-Mak
Department of Psychiatry, Kwai Chung Hospital, Hong Kong, China.
Chi-Chiu
CC
Lee
Department of Psychiatry, Kwai Chung Hospital, Hong Kong, China.
Se-Fong
SF
Hung
Department of Psychology, The Chinese University of Hong Kong, Hong Kong, China.
Patrick Wing-Leung
PW
Leung
Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China.
Karen Ling
KL
Kwong
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Eric Kin-Cheong
EK
Yau
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Grace Sui-Fun
GS
Ng
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Nai-Chung
NC
Fong
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.
Kwok-Yin
KY
Chan
ARRAY CGH; Autism spectrum disorder; Chinese