Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome

• Authors: GULASZY V.; FREIBERGER Tomáš; SHCHERBINA A.; PAC M.; CHERNYSHOVA L.; AVCIN T.; KONDRATENKO Ivan; KOSTYUCHENKO L.; PROKOFJEVA T.; PASIC S.; BERNATOWSKA E.; KUTUKCULER N.; RASCON Jelena; IAGARU N.; MAZZA C.; TOTH B.; ERDOS M.; VAN DER BURG M.; MARODI L.
• Year of publication: 2011
• Type: Article in Periodical
• Magazine / Source: Molecular Immunology
• MU Faculty or unit: Faculty of Medicine
• Doi: http://dx.doi.org/10.1016/j.molimm.2010.11.013
• Field: Genetics and molecular biology
• Keywords: Wiskott-Aldrich syndrome; WASP mutation
• Description: We present here the results of genetic analysis of patients with WAS from eleven Eastern and Central European (ECE) countries and Turkey. Clinical and haematological information of 87 affected males and 48 carrier females from 77 WAS families were collected. The WASP gene was sequenced from genomic DNA of patients with WAS, as well as their familiy members to identify carriers. In this large cohort, we identified 62 unique mutations including 17 novel sequence variants. The mutations were scattered throughout the WASP gene and included single base pair changes (17 missense and 11 nonsense mutations), 7 small insertions, 18 deletions, and 9 splice site defects. Genetic counselling and prenatal diagnosis were applied in four affected families. This study was part of the J Project aimed at identifying genetics basis of primary immunodeficiency disease in ECE countries. This report provides the first comprehensive overview of the molecular genetic and demographic features of WAS in ECE.