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Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations†

  1. Caroline Kannengiesser1,
  2. Bénédicte Gérard1,
  3. Jamel El Benna2,
  4. Dominique Henri1,
  5. Yolande Kroviarski3,
  6. Sylvie Chollet-Martin3,4,
  7. Marie-Anne Gougerot-Pocidalo2,3,
  8. Carole Elbim2,3,
  9. Bernard Grandchamp1,*

Article first published online: 10 JUN 2008

DOI: 10.1002/humu.20820

Issue

Human Mutation

Human Mutation

Special Issue: Focus on Array-CGH and Clinical Diagnostics

Volume 29, Issue 9, pages E132–E149, September 2008

Additional Information

How to Cite

Kannengiesser, C., Gérard, B., El Benna, J., Henri, D., Kroviarski, Y., Chollet-Martin, S., Gougerot-Pocidalo, M.-A., Elbim, C. and Grandchamp, B. (2008), Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations. Hum. Mutat., 29: E132–E149. doi: 10.1002/humu.20820

Author Information

  1. 1

    AP-HP, Hôpital Bichat-Claude Bernard, Service de Biochimie Hormonale et Génétique, 46 rue Henri Huchard, 75018 Paris, France; Université Denis Diderot, Paris, France

  2. 2

    INSERM U773; Université Denis Diderot; 16 rue Henri Huchard, 75018 Paris, France

  3. 3

    AP-HP, Hôpital Bichat-Claude Bernard, Département d' Immunologie et d'Hématologie, 46 rue Henri Huchard, 75018 Paris, France

  4. 4

    INSERM UMR756 ; Université Paris-Sud, Chatenay-Malbry, F-9296, France

*Service de Biochimie Hormonale et Génétique, 46 rue Henri Huchard, 75018 Paris, France

  1. †

    Communicated by Mauno Vihinen

Publication History

  1. Issue published online: 27 AUG 2008
  2. Article first published online: 10 JUN 2008
  3. Manuscript Accepted: 14 APR 2008
  4. Manuscript Received: 17 DEC 2007

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Keywords:

  • CYBB;
  • chronic granulomatous disease;
  • CGD;
  • X-linked;
  • PMN

Abstract

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.

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