Le rendement diagnostique de l'éventail CGH chez les patients avec un trouble du spectre de l'autisme à Hong Kong

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Clin Transl Med. 2016 Dec;5(1):18. doi: 10.1186/s40169-016-0098-1. Epub 2016 May 16.

Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong

Siu WK^1,2, Lam CW³, Mak CM², Lau ET⁴, Tang MH⁴, Tang WF⁴, Poon-Mak RS⁵, Lee CC⁶, Hung SF⁶, Leung PW⁷, Kwong KL⁸, Yau EK⁹, Ng GS⁹, Fong NC⁹, Chan KY⁹.

Author information

• ¹Department of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China.
• ²Kowloon West Cluster Laboratory Genetics Service, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
• ³Department of Pathology, The University of Hong Kong, 102 Pokfulam Road, Hong Kong, China. ching-wanlam@pathology.hku.hk
• ⁴Department of Obstetrics and Gynaecology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
• ⁵Department of Clinical Psychology, Kwai Chung Hospital, Hong Kong, China.
• ⁶Department of Psychiatry, Kwai Chung Hospital, Hong Kong, China.
• ⁷Department of Psychology, The Chinese University of Hong Kong, Hong Kong, China.
• ⁸Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Hong Kong, China.
• ⁹Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Hong Kong, China.

Abstract

BACKGROUND:

Les biopuces chromosomiques offre une sensibilité supérieure pour l'identification des variations du nombre de copies (CNV) submicroscopiques et il est préconisé en tant que premier test génétique de niveau pour les patients avec troubles du spectre de l'autisme (TSA). À cet égard, le rendement diagnostique de l'éventail comparatif de l'hybridation génomique comparative (CGH) pour les patients avec TSA est déterminé dans une cohorte de patients chinois à Hong Kong.
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:

Dans cette étude, un rendement diagnostique satisfaisant de l'éventail CGH a été démontré dans une cohorte  chinoise de patient avec TSA ce qui a soutenu l'utilité clinique de l'éventail CGH comme test de première ligne du TSA à Hong Kong.
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.

PMID: 27271878

PMCID: PMC4896892

DOI: 10.1186/s40169-016-0098-1