Ontology highlight
ABSTRACT:
SUBMITTER: Gronskov K
PROVIDER: S-EPMC3060329 | biostudies-literature | 2011 Apr
REPOSITORIES: biostudies-literature
European journal of human genetics : EJHG 20110126 4
Fragile X syndrome is a common cause of inherited intellectual disability. It is caused by lack of the FMR1 gene product FMRP. The most frequent cause is the expansion of a CGG repeat located in the 5'UTR of FMR1. Alleles with 200 or more repeats become hypermethylated and transcriptionally silent. Only few patients with intragenic point mutations in FMR1 have been reported and, currently, routine analysis of patients referred for fragile X syndrome includes solely analysis for repeat expansion ...[more]