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Article

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

European journal of human genetics : EJHG - 1 Jan 1996

Villard L, Lacombe D, Fontés M

Abstract excerpt

We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene involved in the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. ATR-X mutations were only found in the 3'-part of the coding sequence, which includes the helicase domains. However, no ATR-X mutation has...

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Source

Identifiers

PMID: 9043863
DOI: 10.1159/000472225

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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Click a neighbor to travelStep 1 · 12 closest

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.PMID 9043863Read ↗

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].Semantic proximity Read ↗

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

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

A novel splicing mutation of the ATRX gene in ATR-X syndrome.Semantic proximity Read ↗

New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.Semantic proximity Read ↗

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

A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.Semantic proximity Read ↗

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Semantic proximity Read ↗

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).Semantic proximity Read ↗

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

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.Semantic proximity Read ↗

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