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Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations
Author(s) -
Kannengiesser Caroline,
Gérard Bénédicte,
El Benna Jamel,
Henri Dominique,
Kroviarski Yolande,
CholletMartin Sylvie,
GougerotPocidalo MarieAnne,
Elbim Carole,
Grandchamp Bernard
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20820
Subject(s) - chronic granulomatous disease , biology , proband , genetics , mutation , nadph oxidase , gene , immunology , reactive oxygen species
Chronic granulomatous disease (CGD) results from constitutional inactivating mutations in the CYBB , NCF1 , CYBA or NCF2 genes that encode subunits of phagocyte NADPH oxidase. We report the findings of molecular analysis of 80 kindred. In 75 unrelated male and 5 female probands, CGD was suspected on the basis of clinical symptoms, and biological samples were referred to our laboratory between 2000 and 2007. Seventy seven patients were found to have mutations in CYBB , NCF1 , CYBA or NCF2 (52 different mutations including 31 mutations not previously reported). CYBB was the most frequently mutated gene (58 males and 3 females, 76%). In autosomal recessive forms of the disease, mutations were found in NCF1 (11 patients), NCF2 (3 patients) and CYBA (2 patients). We observed that significantly fewer females were affected by autosomal recessive CGD than expected (2 females/14 males; p=0.002), suggesting that female patients with CGD may be under diagnosed. © 2008 Wiley‐Liss, Inc.