Journal
GENES
Volume 12, Issue 4, Pages -Publisher
MDPI
DOI: 10.3390/genes12040560
Keywords
autism spectrum disorder; diagnostic yield; exome sequencing; chromosomal microarray; FMR1 testing; copy number variations
Categories
Funding
- Fundacion Mutua Madrilena (FundMM 2019)
- Fundacion Alicia Koplowitz [AKOPLOWITZ18_001]
- AGAUR from the Autonomous Catalan Government [2017SGR1134]
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The study compared the clinical utility of CMA, FMR1 testing, and/or WES in 343 ASD patients, finding a higher diagnostic power of WES compared to CMA in the study of ASD. The results support the implementation of WES as a first-tier test for the genetic diagnosis of ASD.
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. Current guidelines recommend chromosomal microarray (CMA) and a FMR1 testing as first-tier tests, but there is increasing evidence that support the use of NGS for the diagnosis of NDDs. Specifically in ASD, it has not been extensively evaluated and, thus, we performed and compared the clinical utility of CMA, FMR1 testing, and/or whole exome sequencing (WES) in a cohort of 343 ASD patients. We achieved a global diagnostic rate of 12.8% (44/343), the majority of them being characterised by WES (33/44; 75%) compared to CMA (9/44; 20.4%) or FMR1 testing (2/44; 4.5%). Taking into account the age at which genetic testing was carried out, we identified a causal genetic alteration in 22.5% (37/164) of patients over 5 years old, but only in 3.9% (7/179) of patients under this age. Our data evidence the higher diagnostic power of WES compared to CMA in the study of ASD and support the implementation of WES as a first-tier test for the genetic diagnosis of this disorder, when there is no suspicion of fragile X syndrome.
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