Identification and characterization of a novel splice-site mutation in a patient with Waistcoat-Aldrich syndrome

Nuria Andreu, Carmen Carreras, Félix Prieto, Xavier P. Estivill, Victor Volpini, Cristina Fillat

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by immunodeficiency, eczema, and thrombocytopenia with small platelets. A wide spectrum of mutations in the Wiskott-Aldrich syndrome protein (WASP) gene have been identified as causative of the disease. In the present paper, we report on a family with a boy affected by WAS, with a splice-site mutation caused by a T to G substitution in the + 2 position of intron 6 (IVS6 + 2T > G). Expression studies performed in COS-7 and U-937 cells showed that the mutation affected the normal splicing process. As a consequence, an abnormally long transcript of 38 nucleotides is generated. Such missplicing is probably due to the activation of a cryptic splice donor site located 38 nt downstream of exon 6. The translation of such aberrant mRNA will produce a truncated protein with a premature stop at codon 190. Thus, a novel splice-site mutation is reported in a patient with a mild WAS phenotype.

Original languageEnglish
Pages (from-to)590-593
Number of pages4
JournalJournal of Human Genetics
Volume48
Issue number11
DOIs
Publication statusPublished - 2003
Externally publishedYes

Fingerprint

Wiskott-Aldrich Syndrome
RNA Splice Sites
Mutation
Wiskott-Aldrich Syndrome Protein
Nonsense Codon
Eczema
Thrombocytopenia
Introns
Exons
Blood Platelets
Nucleotides
Phenotype
Messenger RNA
Genes
Proteins

Keywords

  • Expression studies
  • Molecular analysis
  • Splice-site mutation
  • Wiskott-Aldrich syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Identification and characterization of a novel splice-site mutation in a patient with Waistcoat-Aldrich syndrome. / Andreu, Nuria; Carreras, Carmen; Prieto, Félix; Estivill, Xavier P.; Volpini, Victor; Fillat, Cristina.

In: Journal of Human Genetics, Vol. 48, No. 11, 2003, p. 590-593.

Research output: Contribution to journalArticle

Andreu, Nuria ; Carreras, Carmen ; Prieto, Félix ; Estivill, Xavier P. ; Volpini, Victor ; Fillat, Cristina. / Identification and characterization of a novel splice-site mutation in a patient with Waistcoat-Aldrich syndrome. In: Journal of Human Genetics. 2003 ; Vol. 48, No. 11. pp. 590-593.
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AU - Andreu, Nuria

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AU - Prieto, Félix

AU - Estivill, Xavier P.

AU - Volpini, Victor

AU - Fillat, Cristina

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