Article (Scientific journals)
Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms: Identification of Novel Cystic Fibrosis Transmembrane Conductance Regulator and Epithelial Sodium Channel Gene Variants.
Mutesa, Léon; Azad, Abul Kalam; Verhaeghe, Catherine et al.
2009In CHEST, 135 (5), p. 1233-42
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Keywords :
Adolescent; African Continental Ancestry Group/genetics; Child; Child, Preschool; Chromatography, High Pressure Liquid; Cystic Fibrosis/genetics; Epithelial Sodium Channel/genetics; Cystic Fibrosis Transmembrane Conductance Regulator/genetics; Female; Genetic Variation; Humans; Male; Mutation; Phenotype; Polymorphism, Genetic; Rwanda
Abstract :
[en] Background The defect in chloride and sodium transport in cystic fibrosis (CF) patients is a consequence of CFTR loss of function and of an abnormal interaction between CFTR and ENaC. A few patients were described with CF-like symptoms, a single CFTR mutation and an ENaC mutation. Methods To study African patients with CF-like symptoms and to relate the disease to gene mutations of both CFTR and ENaC genes, we collected clinical data and DNA samples from 60 African patients with a CF phenotype. The CFTR gene was first analyzed in all patients by dHPLC followed by direct sequencing, whereas the SCNN1A, SCNN1B and SCNN1G subunits of ENaC gene were analyzed by sequencing in the five patients who carried only one CF mutation. The frequency of all identified ENaC variants was established in a control group of 200 healthy individuals and in the 55 CF-like patients without any CFTR mutation Results Three CFTR mutants, including one previously undescribed missense mutation (p.A204T), and a 5T/7T variant were identified in five patients. ENaC gene sequencing in these 5 patients detected 8 ENaC variants: c.72T>C and p.V573I in SCNN1A; p.V348M, p.G442V, c.1473 + 28C>T, and p.T577T in SCNN1B; and p.S212S, c.1176 + 30G>C in SCNN1G. In the 55 CF-like patients without any CFTR mutation, we identified five of these eight ENaC variants, including the frequent p.G442V polymorphism, but we did not detect the presence of the p.V348M, p.T577T, and c.1176 + 30G>C ENaC variants. Moreover, these last three ENaC variants, p.V348M, p.T577T, and c.1176 + 30G>C, were not found in the control group. Conclusion Our data suggest that CF-like syndrome in Africa could be associated with CFTR and ENaC mutations.
Disciplines :
Genetics & genetic processes
Pediatrics
Author, co-author :
Mutesa, Léon
Azad, Abul Kalam
Verhaeghe, Catherine ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique générale et humaine
Segers, Karin ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Vanbellinghen, Jean-François ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Ngendahayo, Louis
Rusingiza, Emmanuel Kamanzi
Mutwa, Philippe Rutwaza
Rulisa, Stephen
Koulischer, Lucien ;  Université de Liège - ULiège > Centres attachés à la Faculté (Médecine) > Centre interdisciplinaire de génétique humaine
Cassiman, Jean-Jacques
Cuppens, Harry
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique générale et humaine
More authors (3 more) Less
Language :
English
Title :
Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms: Identification of Novel Cystic Fibrosis Transmembrane Conductance Regulator and Epithelial Sodium Channel Gene Variants.
Publication date :
2009
Journal title :
CHEST
ISSN :
0012-3692
eISSN :
1931-3543
Publisher :
American College of Chest Physicians, Northbrook, United States - Illinois
Volume :
135
Issue :
5
Pages :
1233-42
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 30 January 2009

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