Locus 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

2-3 (four individuals)².

HPO Terms

–

Association

Mendelian

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.

Detection

Year

2014²

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

CGG

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CGG

Pathogen. (gene)

CGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interrup. (gene)

–

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

3omim:616181

Additional Literature

Additional literature related to this locus.

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