Reference : Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms: Identificati...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Human health sciences : Pediatrics
http://hdl.handle.net/2268/21350
Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms: Identification of Novel Cystic Fibrosis Transmembrane Conductance Regulator and Epithelial Sodium Channel Gene Variants.
English
Mutesa, Léon [> > > >]
Azad, Abul Kalam [> > > >]
Verhaeghe, Catherine mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > GIGA-R : Génétique générale et humaine >]
Segers, Karin mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Vanbellinghen, Jean-François mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Ngendahayo, Louis [> > > >]
Rusingiza, Emmanuel Kamanzi [> > > >]
Mutwa, Philippe Rutwaza [> > > >]
Rulisa, Stephen [> > > >]
Koulischer, Lucien [> > > >]
Cassiman, Jean-Jacques [> > > >]
Cuppens, Harry [> > > >]
Bours, Vincent mailto [Université de Liège - ULg > Département des sciences biomédicales et précliniques > Génétique générale et humaine >]
2009
CHEST
American College of Chest Physicians
135
5
1233-42
Yes (verified by ORBi)
International
0012-3692
1931-3543
Northbrook
IL
[en] 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
[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.
http://hdl.handle.net/2268/21350
also: http://hdl.handle.net/2268/5282
10.1378/chest.08-2246

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