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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous Disease - Identification of eight novel mutations in CYBB and NCF2 genes
Journal of Clinical Immunology, Volume 32, No. 5, Year 2012
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Description
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 X910, X91+ or X91- variants according to cytochrome b558 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 X910CGD 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. © Springer Science+Business Media, LLC 2012.
Authors & Co-Authors
Martel, Cécile
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Mollin, Michelle
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Beaumel, Sylvain
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Brion, Jean Paul
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Coutton, Charles
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, La Tronche
Cnrs Fre3405
France, Saint Martin D'heres
Université Grenoble Alpes
Satre, Véronique
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, La Tronche
Cnrs Fre3405
France, Saint Martin D'heres
Université Grenoble Alpes
Vieville, Gaëlle
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Callanan, Mary
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, La Tronche
Albert Bonniot Institute Iab: Ontogenesis and Molecular Oncogenesis
Lefebvre, Christine
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Salmon, A.
France, Vandoeouvre-les-nancy
Hopital D'enfants Chu Nancy
Pagnier, Anne
France, Vandoeouvre-les-nancy
Hopital D'enfants Chu Nancy
Plantaz, Dominique
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Bost-Bru, Cécile
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Eitenschenck, Laurence
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Durieu, Isabelle
France, Lyon
Centre Hospitalier Lyon-sud
Flóret, Daniel
France, Villeurbanne
Université Claude Bernard Lyon 1
Galambrun, C.
France, Marseille
Ap-hm Assistance Publique - Hôpitaux de Marseille
Chambost, Hervé
France, Saint-etienne
Hôpital Nord Chu de Sainte-etienne
Michel, Gérard
France, Paris
Hôpital Necker Enfants Malades
Stéphan, Jean Louis
France, Paris
Hôpital Necker Enfants Malades
Hermine, Olivier
France, Paris
Hôpital Necker Enfants Malades
Blanche, Stéphane
Unknown Affiliation
Blot, Nathalie
France, Sallanches
Service de Pédiatrie Néonatologique
Rubié, Hervé
France, Toulouse
Hopital Des Enfants
Pouessel, Guillaume
France, Roubaix
Service de Pédiatrie
Drillon-Haus, Stephanie
France, Strasbourg
Hopital de Hautepierre
Conrad, Bernard
Switzerland, Koniz
Diagena
Pósfay-Barbe, Klara Maria
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Havlíčeková, Zuzana
Slovakia, Bratislava
Univerzita Komenského V Bratislave
Voskresenky-Baricic, Tamara
Croatia, Zagreb
University of Zagreb School of Medicine
Jadranka, Kelecic
Croatia, Zagreb
Kbc Zagreb
Arriazu, Maria Cristina
Argentina, Mar de Plata
Hospital Privado Comunidad
Garcia, Luis Alberto
Argentina, Mar de Plata
Hospital Privado Comunidad
Mansour, Lamia Sfaihi Ben
Tunisia, Sfax
Chu Hedi-chaker
Bordigoni, Pierre
France, La Tronche
Albert Bonniot Institute Iab: Ontogenesis and Molecular Oncogenesis
France, Paris
Hôpital Necker Enfants Malades
STASIA, Marie José
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, La Tronche
Techniques for Biomedical Engineering and Complexity Management Informatics, Mathematics and Applications Grenoble Timc-imag
Statistics
Citations: 36
Authors: 36
Affiliations: 22
Identifiers
Doi:
10.1007/s10875-012-9698-8
ISSN:
02719142
e-ISSN:
15732592
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health