Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

ABSTRACT: Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases are shared across disorders and converge on common functional pathways. Using the Ion Torrent platform, we developed a low-cost next-generation sequencing gene panel that has been transferred into clinical practice, replacing single disease-gene analyses for the early diagnosis of individuals with ID/ASD. The gene panel was designed using an innovative in silico approach based on disease networks and mining data from public resources to score disease-gene associations. We analyzed 150 unrelated individuals with ID and/or ASD and a confident diagnosis has been reached

SUBMITTER: Aspromonte MC 

PROVIDER: S-EPMC7428836 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature