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
Cécile MartelMarie José Stasia

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...Continue Reading

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Citations

Sep 16, 2015·The Journal of Allergy and Clinical Immunology·Francisco A BonillaJames W Verbsky
Jul 18, 2015·Pediatric Blood & Cancer·Edgar Borges de Oliveira-JuniorAntonio Condino-Neto
Jul 8, 2014·Immunological Investigations·Sun Hi KoJoong Gon Kim
Sep 25, 2017·International Journal of Immunogenetics·M BadalzadehZ Pourpak
Jun 28, 2021·Blood Cells, Molecules & Diseases·Dirk RoosDouglas B Kuhns

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