2. Academic Validation
  3. Partial duplications of the ATRX gene cause the ATR-X syndrome

Partial duplications of the ATRX gene cause the ATR-X syndrome

  • Eur J Hum Genet. 2007 Oct;15(10):1094-7. doi: 10.1038/sj.ejhg.5201878.
Bernard Thienpont 1,  Thomy de Ravel,  Hilde Van Esch,  Dominique Van Schoubroeck,  Philippe Moerman,  Joris Robert Vermeesch,  Jean-Pierre Fryns,  Guy Froyen,  Caroline Lacoste,  Catherine Badens,  Koen Devriendt
Affiliations

Affiliation

  • 1 Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
PMID: 17579672 DOI: 10.1038/sj.ejhg.5201878
Abstract

ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

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