Relevance to Autism

Hemizygous or heterozygous mutations in the TFE3 gene are responsible for X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (MRXSPF; OMIM 301066), a disorder characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism; autism spectrum disorder or autistic features (frequently in the form of stereotypic movements) have been observed in a subset of affected individuals (Villegas et al., 2019; Diaz et al., 2020; Lehalle et al., 2020). A rare potentially damaging de novo missense variant in this gene was observed in a male ASD proband from the Autism Sequencing Consortium (Satterstrom et al., 2020).

Molecular Function

This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta) signaling.

External Links

References