Aliases: FGF-14, FHF-4, FHF4, SCA27
Chromosome No: 13
Chromosome Band: 13q33.1
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 21
Evidence score: 0
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Relevance to Autism
Genome-wide investigation of tandem repeats in 17,231 genomes of families with autism from the Autism Speaks MSSNG project and the Simons Simplex Collection in Trost et al., 2020 identified a rare tandem repeat expansion in the FGF14 gene (chr13:102160822-102162469 (AAGGAG;AAGAGG; AAAGAAGAAG)) in seven unrelated ASD probands. This tandem repeat in FGF14 was observed in more than 0.1% of ASD-affected individuals in this cohort and had a frequency less than 0.1% in unaffected siblings, 1000 Genomes, and 1,612 additional population controls from GTEx and the Mayo Clinic Biobank.
Molecular Function
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia (spinocerebellar ataxia-27; OMIM 609307).
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