NDLI: Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

Content Provider	Springer Nature Link
Author	Martel, Cécile Mollin, Michelle Beaumel, Sylvain Brion, Jean Paul Coutton, Charles Satre, Véronique Vieville, Gaëlle Callanan, Mary Lefebvre, Christine Salmon, Alexandra Pagnier, Anne Plantaz, Dominique Bost Bru, Cécile Eitenschenck, Laurence Durieu, Isabelle Floret, Daniel Galambrun, Claire Chambost, Hervé Michel, Gérard Stephan, Jean Louis Hermine, Olivier Blanche, Stéphane Blot, Nathalie Rubié, Hervé Pouessel, Guillaume Drillon Haus, Stephanie Conrad, Bernard Posfay Barbe, Klara M. Havlicekova, Zuzana Voskresenky Baricic, Tamara Jadranka, Kelecic Arriazu, Maria Cristina Garcia, Luis Alberto Mansour, Lamia Sfaihi Ben Bordigoni, Pierre Stasia, Marie José
Copyright Year	2012
Abstract	Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investigated 24 CGD patients and their families. Twenty-one mutations in CYBB were classified as X91$^{0}$, X91$^{+}$ or X91$^{−}$ variants according to cytochrome b $_{558}$ expression. Point mutations in encoding regions represented 50 % of the mutations found in CYBB, splice site mutations 27 %, deletions and insertions 23 %. Eight mutations in CYBB were novel leading to X91$^{0}$CGD cases. Two of these were point mutations: c493G>T and a double mutation c625C>G in exon 6 and c1510C>T in exon 12 leading to a premature stop codon at Gly165 in gp91phox and missense mutations His209Arg/Thr503Ile respectively. Two novel splice mutations in 5′intronic regions of introns 1 and 6 were found. A novel deletion/insertion c1024_1026delCTG/insT results in a frameshift introducing a stop codon at position 346 in gp91phox. The last novel mutation was the insertion of a T at c1373 leading to a frameshift and a premature stop codon at position 484 in gp91phox. For the first time the precise size of two large mutations in CYBB was determined by array-comparative genomic hybridization and carriers’ status were evaluated by multiplex ligation-dependent probe amplification assay. No clear correlation between clinical severity and CYBB mutations could be established. Of three mutations in CYBA, NCF1 and NCF2 leading to rare autosomal recessive CGD, one nonsense mutation c29G>A in exon 1 of NCF2 was new.
Starting Page	942
Ending Page	958
Page Count	17
File Format	PDF
ISSN	02719142
Journal	Journal of Clinical Immunology
Volume Number	32
Issue Number	5
e-ISSN	15732592
Language	English
Publisher	Springer US
Publisher Date	2012-05-05
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Chronic granulomatous disease NADPH oxidase Nox mutation Internal Medicine Medical Microbiology Infectious Diseases Immunology
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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Erratum to: Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease—Identification of Eight Novel Mutations in CYBB and NCF2 Genes

Erratum to: Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease—Identification of Eight Novel Mutations in CYBB and NCF2 Genes

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Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

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