FRA7A ZNF713

A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors¹.

Prevalence

1 proband reported alongside 3 individuals with premutations, found in 2 families without discussion of ancestry/ethnicity².

Age of Onset Details

2-3 (four individuals)².

Locus

hg19

chr7:55955293-55955332

hg38

chr7:55887600-55887639

t2t

chr7:56047900-56047939

Details

176 controls were used to establish the benign range (5-22 repeats), whereas a singular proband was identified with ~450 repeats². The observed intermediate alleles were presumed to function as premutations, with variable amounts of methylation²

Mechanism

LoF

Methylation, evidence of transcriptional misregulation^3,2.

Year

2014²

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

GCG

Pathogenic (ref.)

GCG

Pathogenic (gene)

CGG

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0005258

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

Sofie,Metsu, Jacqueline K,Rainger, Kim,Debacker, Birgitta,Bernhard, Liesbeth,Rooms, Daria,Grafodatskaya, Rosanna,Weksberg, Eric,Fombonne, Martin S,Taylor, Stephen W,Scherer, R Frank,Kooy, David R,FitzPatrick

Human mutation · 2014-11-01

pmid:25196122

omim:616181

Additional Literature

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)