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Article

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

Prenatal diagnosis - 1 Sept 2001

Fichera M, Silengo M, Spalletta A, Giudice M L, Romano C, Ragusa A

Abstract excerpt

The molecular cause of the alpha-thalassemia/mental retardation syndrome (ATR-X) resides in mutations affecting the XNP/ATR-X gene. Recently molecular defects in the gene have been found in singular cases of a discrete number of X-linked mental retardation (XLMR). ATR-X-affected males are characterised by severe mental retardation, distinct facial dysmorphisms and genital abnormalities, besides a wide spectrum of...

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Source

Identifiers

PMID: 11559911
DOI: 10.1002/pd.142

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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Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.PMID 11559911Read ↗

Evaluation of a mutation screening strategy for sporadic cases of 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 syndrome: genetics, clinical spectrum, and management.Semantic proximity Read ↗

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

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

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

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation 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 ↗

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].Semantic proximity Read ↗

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

A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.Semantic proximity Read ↗

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