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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia
Journal of Human Genetics, Volume 51, No. 10, Year 2006
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Description
NADPH oxidase, a multi-subunit protein consisting of cytosolic components and the membrane-bound heterodimer, plays an instrumental role in host defence mechanisms of phagocytes. Genetic deficiency of the enzymatic complex results in an inherited disorder, chronic granulomatous disease (CGD), which is characterized by an impaired phagocyte microbicidal activity. X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively. In the study reported here, we investigated genetic defects underlying CGD in 15 Tunisian patients from 14 unrelated families. Haplotype analyses and homozygosity mapping with microsatellite markers around known CGD genes assigned the genetic defect to NCF1 in four patients, to NCF2 in four patients and to CYBA in two patients. However, one family with two CGD patients seemed not to link the genetic defect to any known AR-CGD genes. Mutation screening identified two novel mutations in NCF2 and CYBA in addition to the recurrent mutation, ΔGT, in NCF1 and a splice site mutation previously reported in a North African patient. Our results revealed the genetic and mutational heterogeneity of the AR recessive form of CGD in Tunisia. © 2006 The Japan Society of Human Genetics and Springer.
Authors & Co-Authors
El Kares, R.
Tunisia, Tunis
Institut Pasteur de Tunis
Barbouche, Mohamed Ridha
Tunisia, Tunis
Institut Pasteur de Tunis
Elloumi-Zghal, H.
Tunisia, Tunis
Institut Pasteur de Tunis
Béjaoui, Mohamed
Tunisia, Tunis
Centre National de Greffe de Moelle Osseuse
Chemli, Jalel
Tunisia, Sousse
Chu Sahloul
Mellouli, Fethi
Tunisia, Tunis
Centre National de Greffe de Moelle Osseuse
Tebib, Néji
Tunisia, Tunis
Hôpital la Rabta
Abdelmoula, Mohamed Slim
Tunisia, Tunis
Hôpital la Rabta
Boukthir, S.
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
Fitouri, Zohra
Tunisia, Tunis
Université de Tunis el Manar, Hôpital D'enfants Béchir Hamza de Tunis
M'Rad, Skander
Tunisia, La Marsa
Université de Tunis el Manar, Hôpital Mongi Slim
Bouslama, Kamel
Tunisia, La Marsa
Université de Tunis el Manar, Hôpital Mongi Slim
Touiri, H.
Tunisia, Tunis
Hôpital la Rabta
Abdelhak, Sonia
Tunisia, Tunis
Institut Pasteur de Tunis
Dellagi, Koussey
Tunisia, Tunis
Institut Pasteur de Tunis
Statistics
Citations: 49
Authors: 15
Affiliations: 6
Identifiers
Doi:
10.1007/s10038-006-0039-8
ISSN:
14345161
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Locations
Tunisia