FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. Though FRA12A can be inherited without phenotypic effect, patients with over 40% of their cells expressing FRA12A exhibit intellectual disability with or without other anomalies. An association between intellectual disability and a methylated polymorphic CGG trinucleotide repeat in the 5' untranslated region of a gene in the FRA12A region has been demonstrated. [provided by RefSeq, Jul 2017]
GeneCards Summary for FRA12A Gene
FRA12A (Fragile Site, Folic Acid Type, Rare, Fra(12)(Q13.1)) is an Uncategorized gene. Diseases associated with FRA12A include Intellectual Disability.