Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

ABSTRACT:

Background

Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene are reported to be one of the relatively more common causes of XLMR with a frequency of approximately 3% in males with proven or probable XLMR. The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the demethylation of H3K4me3 and H3K4me2.

Methods

Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information.

Results

Four novel mutations consisting of two missense mutations, p.A77

SUBMITTER: Abidi FE 

PROVIDER: S-EPMC3711528 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature