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Article

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

European journal of human genetics : EJHG - 1 Feb 2005

Abidi Fatima E, Cardoso Carlos, Lossi Anne-Marie, Lowry Robert Brian, Depetris Danielle, Mattéi Marie-Geneviève, Lubs Herbert A, Stevenson Roger E, Fontes Michel, Chudley Albert E, Schwartz Charles E

Abstract excerpt

The Chudley-Lowry syndrome (ChLS, MIM 309490) is an X-linked recessive condition characterized by moderate to severe mental retardation, short stature, mild obesity, hypogonadism, and distinctive facial features characterized by depressed nasal bridge, anteverted nares, inverted-V-shaped upper lip, and macrostomia. The original Chudley-Lowry family consists of three affected males in two generations. Linkage...

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Identifiers

PMID: 15508018
DOI: 10.1038/sj.ejhg.5201303

Genes

ATR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.PMID 15508018Read ↗

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Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.Semantic proximity Read ↗

ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.Semantic proximity Read ↗

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.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 ↗

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.Semantic proximity Read ↗

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Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.Semantic proximity Read ↗

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