Clinical features and genetic analysis of six patients with Wiskott-Aldrich syndrome reporting two novel mutations: Experience of Erciyes University, Kayseri, Turkey

Patiroglu, T.; Klein, C.; Gungor, H. Eke; Ozdemir, M. A.; Witzel, M.; Karakukcu, M.; Sawalle-Belohradsky, J.; Conca, R. und Unal, E. (2016): Clinical features and genetic analysis of six patients with Wiskott-Aldrich syndrome reporting two novel mutations: Experience of Erciyes University, Kayseri, Turkey. In: Genetic Counseling, Bd. 27, Nr. 1: S. 9-24

Abstract

Clinical features and genetic analysis of six patients with Wiskott-Aldrich syndrome reporting two novel mutations: experience of Erciyes University, Kayseri, Turkey: Aim: The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and recurrent infections. We aimed to share our experience with six children with WAS, including two patients with two novel mutations. Material and Method: We present phenotypical and laboratory description of six patients with WAS. The initial clinical presentation, biochemical and radiological features, molecular diagnosis together with long-term follow-up data are provided. Results: The patients showed increased serum levels of IgE;otherwise the serum levels of IgM were decreased. The percentages of CD3+ T cells were decreased or within lower limit. Four patients underwent molecular genetics analysis and Western blot studies;two of them showed unpublished mutations: a hemizygous splice site mutation in intron 8 (c.778-2A>T), and a hemizygous deletion in exon10 of the WASP gene (c.1017delT;p.S339fsX444) were detected. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells in four studied patients. Conclusions: The major characteristics of patients were thrombocytopenia with decreased mean platelet volume and bleeding. All patients had been previously misdiagnosed as idiopathic thrombocytopenic purpura, demonstrating the importance of a careful differential diagnosis, and intense evaluation.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1015-8146
• Sprache: Englisch