Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.

In this study, we report the experience of two clinical genetic centers using medical exome for diagnosis of neurodevelopmental disorders. We recruited 216 consecutive index patients with neurodevelopmental disorders in two French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (n=33), syndromic intellectual disability (n=122), pediatric neurodegenerative disorders (n=7) and autism spectrum disorder (n=54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnosis yield was higher in patients with intellectual disability as the main diagnosis (32%) than in patients with autism spectrum disorder (3.7%). Our results suggest that the use of medical exome is a valuable strategy for patients with intellectual disability when whole exome sequencing cannot be used as a routine diagnosis tool. PMID: 28708303 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research