CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Journal of Medical Genetics

Volumn 50, Issue 4, 2013, Pages 220-227

  Thauvin Robinet, Christel ^a,b   Munck, Anne ^c,d   Huet, Frédéric ^a,b,c   de Becdelièvre, Alix ^e   Jimenez, Clément ^f   Lalau, Guy ^g   Gautier, Elodie ^h,i   Rollet, Jacques ^j   Flori, Jean ^k   Nové Josserand, Raphaelle ^l   Soufir, Jean Claude ^m   Haloun, Alain ⁿ   Hubert, Dominique ^m   Houssin, Elise ^c   Bellis, Gil ^o   Rault, Gilles ^p   David, Albert ^q   Janny, Laurent ^r   Chiron, Raphael ^s   Rives, Nathalie ^t   Hairion, Dominique ^u   Collignon, Patrick ^v   Valeri, Antoine ^w   Karsenty, Gilles ^x   Rossi, Annick ^y   Audrézet, Marie Pierre ^w   Férec, Claude ^w   Leclerc, Julie ^g   des Georges, Marie ^s   Claustres, Mireille ^s   Bienvenu, Thierry ^m   Gérard, Bénédicte ^d   Boisseau, Pierre ^z   Cabet Bey, Faiza ^aa   Cheilla, David ^c,aa   Feldmann, Delphine ^ab   Clavel, Christine ^ac   Bieth, Eric ^ad   Iron, Albert ^ae   Simon Bouy, Brigitte ^af   Izard, Vincent ^ag   Steffann, Julie ^h   Viville, Stéphane ^k   Costa, Catherine ^e   Drouineaud, Véronique ^f   Fauque, Patricia ^b,f   Binquet, Christine ^h   Bonithon Kopp, Claire ^h   Morris, Mike A ^ah   Faivre, Laurence ^a,b   Goossens, Michel ^e   Roussey, Michel ^c,ai   Girodon, Emmanuelle ^e   more..

^a Medical University of Dijon   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c AFDPHE   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e HENRI MONDOR HOSPITAL   (France)

^f HÔPITAL DU BOCAGE   (France)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h INSERM   (France)

ⁱ DIJON UNIVERSITY HOSPITAL   (France)

^j Clinique Val d'Ouest   (France)

^k SIHCUS CMCO Centre Medico Chirurgical et Obstetrical   (France)

^l CENTRE HOSPITALIER LYON SUD   (France)

^m Hôpital Cochin APHP ^*  (France)

ⁿ CHU de Nantes   (France)

^o INSTITUT NATIONAL D'ÉTUDES DÉMOGRAPHIQUES   (France)

^p CRCM Centre de Perharidy   (France)

^q NANTES UNIVERSITY HOSPITAL   (France)

^r Laboratoire de Biologie de la Reproduction et CECOS   (France)

^s MONTPELLIER UNIVERSITY HOSPITAL   (France)

^t ROUEN UNIVERSITY HOSPITAL   (France)

^u Lab d'Analyses de Biologie Medicale   (France)

^v Laboratoire d'analyses médicales Giorgetti ^*  (France)

^w BREST UNIVERSITY HOSPITAL   (France)

^x HÔPITAL SAINTE MARGUERITE   (France)

^y ETABLISSEMENT FRANÇAIS DU SANG   (France)

^z HÔTEL DIEU   (France)

^aa HOSPICES CIVILS DE LYON   (France)

^ab ARMAND TROUSSEAU HOSPITAL   (France)

^ac HÔPITAL MAISON BLANCHE   (France)

^ad CHU PURPAN   (France)

^ae HÔPITAL PELLEGRIN   (France)

^af CENTRE HOSPITALIER DE VERSAILLES   (France)

^ag BICÊTRE HOSPITAL   (France)

^ah GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^ai RENNES UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ALLELE; ARTICLE; CLINICAL FEATURE; CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS; DISEASE SEVERITY; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HUMAN; INFERTILITY; INFERTILITY THERAPY; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; MALE GENITAL SYSTEM DISEASE; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; VAS DEFERENS;

CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFERTILITY, MALE; MALE; MALE UROGENITAL DISEASES; MUTATION; MUTATION RATE; PHENOTYPE; PRENATAL DIAGNOSIS; SWEAT; VAS DEFERENS;

EID: 84878972085     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101427     Document Type: Article

References (20)

1. Welsh MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D.eds. Metabolic and molecular bases of inherited disease. 8th edn. New York: McGraw-Hill, 2001: 5121-88.
2. Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011;10:S86-102.
3. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW. Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153:S4-14.
4. Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 2009;17:51-65.
5. Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990;61:863-70.
6. Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J. High frequency of the p.Arg117His cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med 1993;328:447-57.
7. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Férec C, Estivill X. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-80.
8. Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000;16:143-56.
9. Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 2007;22:1285-91.
10. Kiesewetter S, Macek M Jr, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J, Amos J, Highsmith WE, Shuber A, Witt DR, Crystal RG, Cutting GR. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet 1993;5:274-8.
11. Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C. Intron-8 polythymidine sequence in Australasian individuals with CF mutations p.Arg117His and R117C. Eur Respir J 2001;17:1195-200.
12. Munck A, Dhondt JL, Sahler C, Roussey M. Implementation of the French nationwide cystic fibrosis newborn screening program. J Pediatr 2008;153:228-33.
13. Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E, Collaborating Working Group on R117H. The very low penetrance of cystic fibrosis for the p.Arg117His mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009;46:752-68.
14. Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959;23:545-9.
15. Hammond KB, Turcios NL, Gibson LE. Clinical evaluation of the macroduct sweat collection system and conductivity analyzer in the diagnosis of cystic fibrosis. J Pediatr 1994;124:255-60.
16. Peckham D, Conway SP, Morton A, Jones A, Webb K. Delayed diagnosis of cystic fibrosis associated with p.Arg117His on a background of 7T polythymidine tract at intron 8. J Cyst Fibros 2006;5:63-5.
17. Armstrong DS, Grimwood K, Carlin JB, Carzino R, Olinsky A, Phelan PD. Bronchoalveolar lavage or oropharyngeal cultures to identify lower respiratory pathogens in infants with cystic fibrosis. Pediatr Pulmonol 1996;21:267-75.
18. Lording A, McGaw J, Dalton A, Beal G, Everard M, Taylor CJ. Pulmonary infection in mild variant cystic fibrosis: implications for care. J Cyst Fibros 2006;5:101-4.
19. Lai HJ, Cheng Y, Cho H, Kosorok MR, Farrell PM. Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis. Am J Epidemiol 2004;159:537-46.
20. Davis PB, Schluchter MD, Konstan MW. Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatr Pulmonol 2004;38:204-9.