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Article

The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism.

European journal of haematology - 1 Oct 2011

Jeanson-Leh Laurence, Charrier Sabine, Proust Alexis, Bilhou-Nabéra Chrystele, Favier Rémi, Deswarte Caroline, Bordigoni Pierre, Galy Anne, Delaunay Jean

Abstract excerpt

Several pediatric patients showing symptoms consistent with the Wiskott-Aldrich syndrome (WAS) were referred to us and turned out to display the c.273+11dup change in the WAS gene. It consisted of the insertion of one C in an unusual tract of 7C near the intron 2 donor splicing site of the WAS gene. In the patients, non-synonymous WAS mutations were found twice only and one mutation was elucidated in RUNX1. In...

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Source

Identifiers

PMID: 21711396
DOI: 10.1111/j.1600-0609.2011.01674.x

Genes

RUNX1

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The c.273+11dup genetic change in the WAS gene is a functionally neutral polymorphism.PMID 21711396Read ↗

A novel splice site mutation in the WAS gene causes Wiskott–Aldrich syndrome in two siblings of a Saudi familySemantic proximity Read ↗

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS geneSemantic proximity Read ↗

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Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome.Semantic proximity Read ↗

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Semantic proximity Read ↗

A Novel Mutation in WAS Gene Causing a Phenotypic Presentation of Wiskott-Aldrich Syndrome: A Case Report.Semantic proximity Read ↗

Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.Semantic proximity Read ↗

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.Semantic proximity Read ↗

IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.Semantic proximity Read ↗

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.Semantic proximity Read ↗

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