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Article

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

European journal of human genetics : EJHG - 1 Aug 2008

Béri-Dexheimer Mylène, Latger-Cannard Véronique, Philippe Christophe, Bonnet Céline, Chambon Pascal, Roth Virginie, Grégoire Marie-José, Bordigoni Pierre, Lecompte Thomas, Leheup Bruno, Jonveaux Philippe

Abstract excerpt

Germline RUNX1 mutations result in a rare autosomal dominant condition characterized by qualitative and quantitative platelet defects and predisposition to the development of myeloid malignancies (familial platelet disorder with propensity to acute myeloid leukaemia, FPD/AML). Only 13 pedigrees have previously been described so far. We report on two novel germline RUNX1 mutations: (1) an out-of-frame 8 bp...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18478040
DOI: 10.1038/ejhg.2008.89

Genes

RUNX1

Variants

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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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