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Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
El Kares, R; Barbouche, M R; Elloumi-Zghal, H; Bejaoui, M; Chemli, J; Mellouli, F; Tebib, N; Abdelmoula, M S; Boukthir, S; Fitouri, Z; M'Rad, S; Bouslama, K; Touiri, H; Abdelhak, S; Dellagi, M K.
Afiliação
  • El Kares R; Molecular Investigation of Genetic Orphan Diseases Research Unit (MIGOD), Institut Pasteur de Tunis, BP 74, 13 Place Pasteur 1002, Tunis, Tunisia.
  • Barbouche MR; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Institut Pasteur de Tunis, Tunis, Tunisia.
  • Elloumi-Zghal H; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Institut Pasteur de Tunis, Tunis, Tunisia.
  • Bejaoui M; Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia.
  • Chemli J; Service de Pédiatrie, Centre Hospitalo-Universitaire Sahloul, Sousse, Tunisia.
  • Mellouli F; Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia.
  • Tebib N; Service de Pédiatrie, Hôpital La Rabta, Tunis, Tunisia.
  • Abdelmoula MS; Service de Pédiatrie, Hôpital La Rabta, Tunis, Tunisia.
  • Boukthir S; Hôpital d'Enfants, Tunis, Tunisia.
  • Fitouri Z; Hôpital d'Enfants, Tunis, Tunisia.
  • M'Rad S; Hôpital Mongi Slim, La Marsa, Tunisia.
  • Bouslama K; Hôpital Mongi Slim, La Marsa, Tunisia.
  • Touiri H; Service des maladies infectieuses, Hôpital La Rabta, Tunis, Tunisia.
  • Abdelhak S; Molecular Investigation of Genetic Orphan Diseases Research Unit (MIGOD), Institut Pasteur de Tunis, BP 74, 13 Place Pasteur 1002, Tunis, Tunisia. sonia.abdelhak@pasteur.rns.tn.
  • Dellagi MK; Laboratory of Immunopathology, Vaccinology and Molecular Genetics, Institut Pasteur de Tunis, Tunis, Tunisia.
J Hum Genet ; 51(10): 887-895, 2006.
Article em En | MEDLINE | ID: mdl-16937026
ABSTRACT
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, DeltaGT, 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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterogeneidade Genética / Genes Recessivos / Doença Granulomatosa Crônica / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Africa Idioma: En Revista: J Hum Genet Ano de publicação: 2006 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Heterogeneidade Genética / Genes Recessivos / Doença Granulomatosa Crônica / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Africa Idioma: En Revista: J Hum Genet Ano de publicação: 2006 Tipo de documento: Article