Journal article
A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families
Abstract
We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line (LCL). His unaffected mother carried an unmethylated premutation (85 repeats). …
Authors
Metsu S; Rainger JK; Debacker K; Bernhard B; Rooms L; Grafodatskaya D; Weksberg R; Fombonne E; Taylor MS; Scherer SW
Journal
Human Mutation, Vol. 35, No. 11, pp. 1295–1300
Publisher
Hindawi
Publication Date
9 2014
DOI
10.1002/humu.22683
ISSN
1059-7794