Aliases: FRG1A, FSG1
Chromosome No: 4
Chromosome Band: 4q35.2
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 12
Evidence score: 2
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Relevance to Autism
Two de novo postzygotic nonsense variants in the FRG1 gene were identified in a cohort of 360 Spanish ASD probands in AlonsoGonzalez et al., 2021. Subsequent TADA analysis of post-zygotic mutations in the discovery cohort of Spanish ASD probands, as well as in a combined ASD cohort of 2171 trios, identified FRG1 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.
Molecular Function
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus.
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