Targeted sequencing in neurodevelopmental disorders: a case-control study

Targeted sequencing in neurodevelopmental disorders: a case-control study

Neurodevelopmental disorders, for example intellectual disability, autism and developmental delay, are heterogeneous conditions of which little is known in terms of their broad underlying genetics (twin studies confirm there is a genetic component, and exome sequencing studies have captured extremely rare mutations). Stessman et al. published a comprehensive study describing targeted sequencing of 208 candidate genes in 11,730 cases and 2867 controls. 50% of the cases had a prior diagnosis of autism spectrum disorder, and the remaining had intellectual disability. Molecular inversion probes (a technique originating from early genotyping assays) were used to focus on the 208 genes. 91 genes showed increased de novo mutations, and the authors then used functional studies in Drosophila as follow up. The authors performed a network-based analysis and identified interacting genes associated with high-functioning autism. Three new candidate risk genes were identified: NAA15, KMT5B, and ASH1L.

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