Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease


Koker M. Y., Van Leeuwen K., De Boer M., Celmeli F., Metin A., Oezguer T. T., ...More

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, vol.39, no.4, pp.311-319, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2009
  • Doi Number: 10.1111/j.1365-2362.2009.02093.x
  • Journal Name: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.311-319
  • Keywords: Chronic granulomatous disease, consanguineous marriages, CYBA, DHR assay, immunodeficiency, p22-phox, SPLICE-SITE MUTATION, NADPH OXIDASE, CYTOCHROME-B, LIGHT CHAIN, P22-PHOX, NEUTROPHILS, HETEROGENEITY, NOMENCLATURE, ACTIVATION, LOCATION
  • Erciyes University Affiliated: Yes

Abstract

One of the rarest forms of autosomal recessive chronic granulomatous disease (AR-CGD) is attributable to mutations in the CYBA gene, which encodes the alpha polypeptide of cytochrome b(558), (also known as p22-phox), a key transmembrane protein in the phagocyte NADPH oxidase system. This gene is localized on chromosome 16q24, encompasses 8.5 kb and contains six exons.