Patterns of de novo tandem repeat mutations and their role in autism.

ABSTRACT: Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by deficits in communication and social interaction and restrictive or repetitive behaviours^1,2. Family studies demonstrate that ASD has a substantial genetic basis with contributions both from inherited and de novo variants^3,4. It has been estimated that de novo mutations may contribute to 30% of all simplex cases, in which only a single child is affected per family⁵. Tandem repeats (TRs), defined here as sequences of 1 to 20 base pairs in size repeated consecutively, comprise one of the major sources of de novo mutations in humans⁶. TR expansions are implicated in dozens of neurological and psychiatric disorders⁷. Yet, de novo TR mutations have not

SUBMITTER: Mitra I 

PROVIDER: S-EPMC7810352 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature