Autism traits in the RASopathies.

ABSTRACT:

Background

Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spectrum disorders (ASD). Although the literature offers conflicting evidence for association of NF1 and autism, there has been no systematic evaluation of autism traits in the RASopathies as a class to support a role for germline Ras/MAPK activation in ASDs.

Methods

We examined the association of autism traits with NF1, NS, CS and CFC, comparing affected probands with unaffected sibling c

SUBMITTER: Adviento B 

PROVIDER: S-EPMC4230531 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature