Ontology highlight
ABSTRACT:
SUBMITTER: Winnepenninckx B
PROVIDER: S-EPMC1785358 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Winnepenninckx Birgitta B Debacker Kim K Ramsay Jacqueline J Smeets Dominique D Smits Arie A FitzPatrick David R DR Kooy R Frank RF
American journal of human genetics 20061212 2
A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify an elongated polymorphic CGG repeat as the molecular basis of FRA12A. This repeat is in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation machinery. DIP2B mRNA levels were halved in two subjects with FRA12A with mental retardation in whom the repeat e ...[more]