Article
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics - 1 Feb 2005
Jensen Lars Riff, Amende Marion, Gurok Ulf, Moser Bettina, Gimmel Verena, Tzschach Andreas, Janecke Andreas R, Tariverdian Gholamali, Chelly Jamel, Fryns Jean-Pierre, Van Esch Hilde, Kleefstra Tjitske, Hamel Ben, Moraine Claude, Gecz Jozef, Turner Gillian, Reinhardt Richard, Kalscheuer Vera M, Ropers Hans-Hilger, Lenzner Steffen
Abstract excerpt
In families with nonsyndromic X-linked mental retardation (NS-XLMR), >30% of mutations seem to cluster on proximal Xp and in the pericentric region. In a systematic screen of brain-expressed genes from this region in 210 families with XLMR, we identified seven different mutations in JARID1C, including one frameshift mutation and two nonsense mutations that introduce premature stop codons, as well as four missense...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.