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Article

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

American journal of human genetics - 1 Mar 1996

Villard L, Toutain A, Lossi A M, Gecz J, Houdayer C, Moraine C, Fontès M

Abstract excerpt

We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene involved in the X-linked alpha-thalassemia with mental retardation (ATR-X) syndrome. The widespread expression and numerous domains present in the putative protein suggest that this gene could be involved in other phenotypes. The predominant expression of...

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Identifiers

PMID: 8644709
PMCID: PMC1914575

Genes

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.PMID 8644709Read ↗

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.Semantic proximity Read ↗

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

A novel splicing mutation of the ATRX gene in 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 ↗

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

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 ↗

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

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

Expanding phenotype of XNP mutations: mild to moderate mental retardation.Semantic proximity Read ↗

[X-linked alpha-thalassemia/mental retardation syndrome].Semantic proximity Read ↗

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.Semantic proximity Read ↗

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

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