FRA7A ZNF713

Sparse
Disease ID
FRA7A
Gene ID
ZNF713
Clinical Links
MalaCard
ATS007
OMIM
616181
Bioinformatical Links
TR-Atlas
TR300995
WebSTR hg38
13802405696269
WebSTR hg19
STR_1325788

Disease

Name
Autism spectrum disorder associated with fragile site FRA7A
Inheritance
Autosomal dominant
Description
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 OnsetYears2  3
Age of Onset Details
2-3 (four individuals)2 .

Locus

hg19
chr7:55955294-55955332
hg38
chr7:55887601-55887639
t2t
chr7:56047901-56047939
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 misregulation3,2 .
Year
20142
Location in Gene
Intron 1
Gene Strand

Alleles

Ref. Motif
GCG
Pathogenic (ref.)
GCG
Pathogenic (gene)
CGG
BenignIntermediatePathogenicUnits5  2242  85450  450

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0005258
2
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
3
omim:616181

Additional Literature

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