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Article

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

Human mutation - 1 Apr 2006

Tzschach Andreas, Lenzner Steffen, Moser Bettina, Reinhardt Richard, Chelly Jamel, Fryns Jean-Pierre, Kleefstra Tjitske, Raynaud Martine, Turner Gillian, Ropers Hans-Hilger, Kuss Andreas, Jensen Lars Riff

Abstract excerpt

X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. Here, we report five novel JARID1C mutations in five XLMR families. The changes comprise one nonsense mutation...

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PMID: 16541399
DOI: 10.1002/humu.9420

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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