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Article

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

European journal of human genetics : EJHG - 1 Oct 2007

Thienpont Bernard, de Ravel Thomy, Van Esch Hilde, Van Schoubroeck Dominique, Moerman Philippe, Vermeesch Joris Robert, Fryns Jean-Pierre, Froyen Guy, Lacoste Caroline, Badens Catherine, Devriendt Koen

Abstract excerpt

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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Source

Identifiers

PMID: 17579672
DOI: 10.1038/sj.ejhg.5201878

Genes

ATRX
ATR

Provenance

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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Partial duplications of the ATRX gene cause the ATR-X syndrome.PMID 17579672Read ↗

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ATRX and sex differentiation.Semantic proximity Read ↗

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ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.Semantic proximity Read ↗

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