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Article

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Journal of medical genetics - 1 Mar 1999

Villard L, Bonino M C, Abidi F, Ragusa A, Belougne J, Lossi A M, Seaver L, Bonnefont J P, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M

Abstract excerpt

We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene reported to date fall into a short 300 bp region of the transcript, we decided to focus in this region and to extend the mutation analysis to cases with a negative family history. This study includes 21 mentally retarded...

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Identifiers

PMID: 10204841
PMCID: PMC1734331

Genes

ATR

Provenance

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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Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.PMID 10204841Read ↗

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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ATR-X syndrome: genetics, clinical spectrum, and management.Semantic proximity Read ↗

Partial duplications of the ATRX gene cause the 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 ↗

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

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.Semantic proximity Read ↗

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

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.Semantic proximity Read ↗

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.Semantic proximity Read ↗

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

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