Aliases: CyaY, FA, FARR, FRDA, X25
Chromosome No: 9
Chromosome Band: 9q21.11
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
|
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 FXN gene (chr9:69036648-69037984 (AAG;AAGGAG)) in eight unrelated ASD probands. This tandem repeat in FXN was observed in more than 0.1% of ASD-affected individuals in this cohort and had a frequency 0.1% in unaffected siblings, 1000 Genomes, and 1,612 additional population controls from GTEx and the Mayo Clinic Biobank.
Molecular Function
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia (OMIM 229300).
External Links
