Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease

European Respiratory Journal

Volumn 34, Issue 3, 2009, Pages 772-773

  Fajac, I ^a,b   Viel, M ^b   Gaitch, N ^b   Hubert, D ^a,b   Bienvenu, T ^a,b,c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b CNRS ^*  (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EPITHELIAL SODIUM CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AGED; AMINO ACID SUBSTITUTION; BRONCHIECTASIS; CFTR GENE; CYSTIC FIBROSIS; ENAC ALPHA GENE; ENAC BETA GENE; ENAC GAMMA GENE; ENAC GENE; EXON; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; INTRON; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL;

AGED; BRONCHIECTASIS; CASE-CONTROL STUDIES; COHORT STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL SODIUM CHANNEL; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 70349117013     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00057309     Document Type: Letter

References (8)

1. Fajac I, Viel M, Sublemontier S, et al. Could a defective epithelial sodium channel lead to bronchiectasis. Respir Res 2008; 9: 46-53.
2. Azad AK, Rauh R, Vermeulen F, et al. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat 2009; 30: 1093-1103.
3. Samaha FF, Rubenstein RC, Yan W, et al. Functional polymorphism in the carboxyl terminus of the a-subunit of the human epithelial sodium channel. J Biol Chem 2004; 279: 23900-23907. (Pubitemid 38725247)
4. Tong Q, Menon AG, Stockand JD. Functional polymorphisms in the α-subunit of the human epithelial Na+ channel increase activity. Am J Physiol Renal Physiol 2006; 290: F821-F827. (Pubitemid 43724942)
5. Sugiyama T, Kato N, Yamori Y, et al. Evaluation of selected polymorphisms of the mendelian hypertensive disease genes in the Japanese population. Hypertens Res 2001; 24: 515-521. (Pubitemid 33048917)
6. Des Georges M, Guittard C, Altieri JP, et al. High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France. J Cyst Fibros 2004; 3: 265-272. (Pubitemid 40227496)
7. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475-1480.
8. Mutesa L, Azad AK, Verhaeghe C, et al. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. Chest 2009; 135: 1233-1242.