Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes

Clinical Genetics

Volumn 86, Issue 1, 2014, Pages 91-95

  Ramos, M D ^a   Trujillano, D ^b,c,d   Olivar, R ^a   Sotillo, F ^a   Ossowski, S ^b,c   Manzanares, J ^e   Costa, J ^f   Gartner, S ^g   Oliva, C ^h   Quintana, E ⁱ   Gonzalez, M I ^j   Vazquez, C ^k   Estivill, X ^b,c,d   Casals, T ^a  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d HOSPITAL DEL MAR   (Spain)

^e HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^f HOSPITAL DE SABADELL   (Spain)

^g HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^h HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^j HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^k HOSPITAL DE CRUCES   (Spain)

more..

Author keywords

CF like disease; CFTR; Cystic fibrosis; ENaC subunits; SERPINA1

Indexed keywords

ADOLESCENT; ARTICLE; ASTHMA; BRONCHITIS; CHILD; CHRONIC RHINOSINUSITIS; CLINICAL ARTICLE; CONTROLLED STUDY; CTFR GENE; CYSTIC FIBROSIS; ENVIRONMENTAL CHANGE; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LUNG FIBROSIS; LUNG FUNCTION; MALE; METABOLIC ALKALOSIS; PANCREAS FUNCTION; PANCREAS INSUFFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SCNN1A GENE; SCNN1B GENE; SCNN1G GENE; SERPINA1 GENE; STAPHYLOCOCCUS AUREUS; SWEAT; SWEAT TEST; ADULT; DNA SEQUENCE; EXOME; GENETICS; MOLECULAR GENETICS; MULTIFACTORIAL INHERITANCE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ALPHA 1 ANTITRYPSIN; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL SODIUM CHANNEL; SCNN1A PROTEIN, HUMAN; SCNN1B PROTEIN, HUMAN; SCNN1G PROTEIN, HUMAN; SERPINA1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALPHA 1-ANTITRYPSIN; BASE SEQUENCE; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EPITHELIAL SODIUM CHANNELS; EXOME; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIFACTORIAL INHERITANCE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84901694842     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12234     Document Type: Article

References (12)

1. Mekus F, Ballmann M, Bronsveld I et al. Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. Hum Genet 1998: 102 (5): 582-586.
2. Groman JD, Meyer ME, Wilmott RW et al. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med 2002: 347 (6): 401-407.
3. + channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet 2005: 14 (22): 3493-3498.
4. 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 (7): 1093-1103.
5. Bamshad MJ, Ng SB, Bigham AW et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011: 12 (11): 745-755.
6. Frangolias DD, Ruan J, Wilcox PJ et al. Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease. Am J Respir Cell Mol Biol 2003: 29 (3 Pt 1): 390-396.
7. Alonso MJ, Heine-Suner D, Calvo M et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet 2007: 71 (Pt 2): 194-201.
8. Ramos MD, Masvidal L, Gimenez J et al. CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries. Ann Hum Genet 2010: 74 (5): 463-469.
9. Trujillano D, Ramos MD, González J et al. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. J Med Genet 2013: 50: 455-462.
10. + channel (ENaC) requires CFTR Cl- channel function. Nature 1999: 402 (6759): 301-304.
11. + absorption produces cystic fibrosis-like lung disease in mice. Nat Med 2004: 10 (5): 487-493.
12. Mishra AGR, Smith K, Carlin JB, Wootton A, Stirling R, Massie J. Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr 2008: 153 (6): 758-763.