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Article

A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.

Molecular medicine reports - 1 Dec 2020

Stabile Mariano, Colavito Davide, Del Giudice Elda, Rispoli Anna F, Ingenito Marina C, Naumova Anna K

Abstract excerpt

The present case report describes an Italian family with three affected probands, who exhibited serious mental disability, which has not been associated with other anomalies, except with slight facial dysmorphism. Molecular multigenic analysis for intellectual disability identified a previously unreported variant, p.Ile1765Met (c.5295C>G) in the SNF domain of the ATRX protein (in exon 24). The identified mutation...

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Identifiers

PMID: 33173999
DOI: 10.3892/mmr.2020.11574
PMCID: PMC7646821

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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.

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