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Article

A novel splicing mutation of the ATRX gene in ATR-X syndrome.

Brain & development - 1 Jun 2006

Wada Takahito, Sakakibara Masae, Fukushima Yoshimitsu, Saitoh Shinji

Abstract excerpt

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM#301040) is an X-linked recessive condition affecting males. ATR-X is characterized by severe mental retardation, mild HbH disease, dysmorphic facies, and genital and skeletal abnormalities. ATR-X is caused by mutations in the ATRX gene. Most mutations affect two functionally important domains, the ADD domain and the helicase domain. Here, we...

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Source

Identifiers

PMID: 16376512
DOI: 10.1016/j.braindev.2005.09.005

Genes

ATR
ATRX

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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A novel splicing mutation of the ATRX gene in ATR-X syndrome.PMID 16376512Read ↗

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 ↗

Mutations in the chromatin-associated protein ATRX.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 ↗

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 ↗

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.Semantic proximity Read ↗

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

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

New heritable ATRX mutation identified by whole exome sequencing and reviewSemantic proximity Read ↗

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.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 ↗

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.Semantic proximity Read ↗

A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.Semantic proximity Read ↗

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