High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

ABSTRACT: Neurodevelopmental disorders (NDDs) affect 2-5% of the population and approximately 50% of cases are due to genetic factors. Since de novo pathogenic variants account for the majority of cases, a gene panel including 460 dominant and X-linked genes was designed and applied to 398 patients affected by intellectual disability (ID)/global developmental delay (GDD) and/or autism (ASD). Pathogenic variants were identified in 83 different genes showing the high genetic heterogeneity of NDDs. A molecular diagnosis was established in 28.6% of patients after high-depth sequencing and stringent variant filtering. Compared to other available gene panel solutions for NDD molecular diagnosis, our panel has a higher diagnostic yield for both ID/GDD and ASD. As reported previously, a significantly

SUBMITTER: Spataro N 

PROVIDER: S-EPMC10048137 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature