Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung and 17 others
PMID 28670437WHAT IT FOUND
A DPP10 duplication was found in 1 of 258 Chinese patients with autism and 6 of 653 typical controls, so it was not more common in autism.
Clinical genetic testing found a pathogenic or likely pathogenic variant in 9 of 258 patients.
Key findings
01A DPP10 duplication was found in 1 of 258 ASD patients and 6 of 653 controls of Chinese typical development, and the difference was not statistically significant.
02Clinical array testing identified 10 pathogenic and 1 likely pathogenic copy-number variants in 9 of 258 patients, a diagnostic yield of 3.5%.
03The study detected 52 variants of uncertain clinical significance in 43 patients, reported as 16.7% of the 258 analysed Chinese ASD patients.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The analysis focused on 258 of 288 recruited patients, all from one Hong Kong centre, so the results may not apply to other Chinese or non-Chinese groups. Few parents were tested, so many copy-number variants could not be classified as inherited or new. The cohort was small for comparing copy-number variant burden between patients and controls. Prenatal DPP10 cases were not systematically recruited or followed up, so their outcomes are hard to interpret. No functional studies were done, such as brain expression analysis of DPP10. Many variants were classified as uncertain, so the genetic test result did not always give a clear explanation. The paper reports genetic test results, not therapy or communication outcomes.
Declared interests
Funding came from the SK Yee Medical Research Fund, the SK Yee Medical Foundation, and the Society for the Relief of Disabled Children. The supplied text gives no further competing-interest statement.
The easy way to misread this
Do not conclude that a DPP10 duplication causes autism. In this cohort it was found in 1 of 258 patients and 6 of 653 controls, and the difference was not statistically significant.