𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Caroline Kannengiesser; Bénédicte Gérard; Jamel El Benna; Dominique Henri; Yolande Kroviarski; Sylvie Chollet-Martin; Marie-Anne Gougerot-Pocidalo; Carole Elbim; Bernard Grandchamp

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
292 KB
Volume
29
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Identification of a donor splice site mu
Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease
✍ Colin D. Porter; Mohamed H. Parkar; Christine Kinnon 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB 👁 1 views

Defects in the phagocyte NADPH oxidase give rise to chronic granulomatous disease (CGD) (Roos, 1994). Two components, gp91-phox and p22-phox, comprise the membrane-associated cytochrome bSss. Defects in the former account for the most common, X-linked form of CGD, for which a large number of mutatio

Molecular analysis in Fabry disease in S
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female
✍ Adriana Rodríguez-Marí; M. José Coll; Amparo Chabás 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 1 views

Fabry disease, an X -linked inborn error of glycosphingolipid catabolism, results from mutations in the α-galactosidase A gene (GLA). Here we report molecular studies in 22 unrelated Spanish patients with Fabry disease ( 20 males and two females). Fifteen novel mutations were identified. In addition

Identification and functional characteri
Identification and functional characterization of two novel mutations in the α-helical loop (residues 484–503) of CYBB/gp91phox resulting in the rare X91+ variant of chronic granulomatous disease
✍ Bernadette Boog; Alex Quach; Maurizio Costabile; Joanne Smart; Patrick Quinn; Ha 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB

Chronic granulomatous disease (CGD) is mainly caused by mutations in X-linked CYBB that encodes gp91. We have identified two novel mutations in CYBB resulting in the rare X91 + -CGD variant, c.1500T>G (p.Asp500Glu) in two male siblings and c.1463C>A (p.Ala488Asp) in an unrelated male. Zymosan and/or