Aliases: MRXSPF, RCCP2, RCCX1, TFEA, bHLHe33
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Syndromic-Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 21
Associated CNVs: 9
Evidence score: 3
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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
