Variants in the BRWD3 gene are responsible for a form of X-linked intellectual disability associated with macrocephaly (Field et al., 2007; Tatton-Brown et al., 2017). A review of 17 males with 12 distinct null variants and 2 partial gene deletions in BRWD3 demonstrated that behavioral issues were present in 75% of patients, with ASD observed in 3 patients and shyness in social situations observed in another 3 patients (Ostrowski et al., 2019).
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription.
Type of Disorder
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.