The very low penetrance of cystic fibrosis for the R117H mutation: A reappraisal for genetic counselling and newborn screening

Journal of Medical Genetics

Volumn 46, Issue 11, 2009, Pages 752-758

  Thauvin Robinet, C ^a,c   Munck, A ^b,c,d   Huet, F ^a,b,c   Genin E ^e   Bellis, G ^f   Gautier, E ^c,g   Audrezet M P ^h,i   Ferec C ^h,i   Lalau, G ^h,j   Des Georges, M ^h,k   Claustres, M ^h,k   Bienvenu, T ^h,l   Gerard B ^d,h   Boisseau, P ^h,m   Cabet Bey, F ^h,n   Feldmann, D ^h,o   Clavel, C ^h,p   Bieth, E ^h,q   Iron, A ^h,r   Simon Bouy, B ^h,s   Costa, C ^h,t   Medina, R ^t   Leclerc, J ^h,j   Hubert, D ^c,l   Nove Josserand R ^c,u   Sermet Gaudelus, I ^c,v   Rault, G ^c,w   Flori, J ^a,x   Leroy, S ^c,j   Wizla, N ^c,j   Bellon, G ^c,y   Haloun, A ^c,z   Perez Martin, S ^a,c   D'Acremont, G ^c,aa   Corvol, H ^c,o   Clement A ^c,o   Houssin, E ^b   Binquet, C ^g   Bonithon Kopp, C ^g   Alberti Boulme C ^d   Morris, M A ^ab   Faivre, L ^a   Goossens, M ^h,t   Roussey, M ^b,c,ac   Girondon, E ^h,t   Bazin, A ^c   Blayau, M ^c   Bonnefont, J P ^c   Bouligand, J ^c   Chery M ^c   Chevalier Porst, F ^c   Costa, J M ^c   Coude, M ^c   Creveaux, I ^c   Dalstein, V ^c   De Becdelievre A ^c   Gerson, F ^c   Gobin Limballe, S ^c   Gouget, A M ^c   Kitzis, A ^c   Lagier Tourenne, C ^c   Magdelaine, C ^c   Malinge, M C ^c   Malzac, P ^c   Mittre, H ^c   Petit, V ^c   Philippe, C ^c   Ray, P ^c   Raynaud, M ^c   Ronsin, C ^c   Schmitt, S ^c   Abely, M ^c   Albert, M ^c   Bassinet, L ^c   Bonnefoy, S ^c   Bourouillou, G ^c   Bremont, F ^c   Brechard, M P ^c   Chardot, C ^c   Chevalier, M C ^c   Chiesa, J ^c   Chiron, R ^c   Ciolkovitch, A ^c   Collignon, P ^c   Counil, F ^c   Costa, P ^c   David, A ^c   David, V ^c   Delacourt, C ^c   Delafontaine, D ^c   Delepoulle, F ^c   Delrue, M A ^c   Deneuville, E ^c   Derelle, J ^c   Desrues, B ^c   Dominique, S ^c   Fanton, A L ^c   Flori, E ^c   Foucaud, P ^c   Froment, S ^c   Gaillard, D ^c   Giacomini, P ^c   Gambert, C ^c   Ginies, J L ^c   Ginglinger, E ^c   Gottrand, F ^c   Guichet, A ^c   Guillot, M ^c   Hairion, D ^c   Heraud, M C ^c   Houriez Bertolo, E ^c   Izard, V ^c   Janny, L ^c   Jeandidier, E ^c   Journel, H ^c   Karsenty, G ^c   Labariere ^c   Lahsinat, K ^c   Langlais, S ^c   Languepin, J ^c   Laurans, M ^c   Lauton, D ^c   Layet, V ^c   Le Bourgeois, M ^c   Le Lannou, D ^c   Lejeune, H ^c   Lenoir, G ^c   Lestrade, F ^c   Llerena, C ^c   Marc, B ^c   Marchand, S ^c   Marguet, C ^c   Marteletti, O ^c   Massat, G ^c   Mely, L ^c   Menetrey, C ^c   Moisan Petit, V ^c   Montcouquiol, S ^c   Moreau, L ^c   Odent, S ^c   Pagenault, M ^c   Parent, P ^c   Pautard, J C ^c   Peter, M O ^c   Pierre, D ^c   Pin, I ^c   Plessis, G ^c   Ramel, S ^c   Rembert Sagot, F ^c   Rives, N ^c   Rollet, J ^c   Rossi, A ^c   Roux, C ^c   Royere, D ^c   Sardet, A ^c   Sarles, J ^c   Siffroi, J P ^c   Saulnier, J P ^c   Sehabiague, J ^c   Sinet, P M ^c   Soufir, J C ^c   Tassin, E ^c   Terro, F ^c   Turck, D ^c   Valeri, A ^c   Vodoff, M V ^c   Wagner, L ^c   Weiss, L ^c   more..

^a Medical University of Dijon   (France)

^b AFDPHE   (France)

^c French CF Care Centres ^*

^d HÔPITAL ROBERT DEBRÉ   (France)

^e FONDATION JEAN DAUSSET CEPH   (France)

^f INSTITUT NATIONAL D'ÉTUDES DÉMOGRAPHIQUES   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

^h French CF Laboratory Network   (France)

ⁱ BREST UNIVERSITY HOSPITAL   (France)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k MONTPELLIER UNIVERSITY HOSPITAL   (France)

^l CHU Hôtel Dieu ^*  (France)

^m HÔTEL DIEU   (France)

ⁿ HOSPICES CIVILS DE LYON   (France)

^o ARMAND TROUSSEAU HOSPITAL   (France)

^p HÔPITAL MAISON BLANCHE   (France)

^q CHU PURPAN   (France)

^r HÔPITAL PELLEGRIN   (France)

^s CENTRE HOSPITALIER DE VERSAILLES   (France)

^t HENRI MONDOR HOSPITAL   (France)

^u CENTRE HOSPITALIER LYON SUD   (France)

^v HÔPITAL NECKER ENFANTS MALADES   (France)

^w CRCM Centre de Perharidy   (France)

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

^y Groupement Hospitalier Lyon Est   (France)

^z CHU de Nantes   (France)

^aa CHI de Creteil   (France)

^ab GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^ac SERVICE DE RHUMATOLOGIE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CHILD; CYSTIC FIBROSIS; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; R117H GENE;

CROSS-SECTIONAL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC COUNSELING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; KAPLAN-MEIERS ESTIMATE; MUTATION; NEONATAL SCREENING; PENETRANCE; PHENOTYPE;

EID: 72449149800     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.067215     Document Type: Article

References (37)

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 ed. New York: McGraw-Hill, 2001:5121-5188
2. Cystic Fibrosis Mutation Database. www.genet.sickkids.on.ca/cftr/.
3. Castellani C, Cuppens H, Macek Jr M, Cassiman J, Kerem E, Durie P, Tullis E, Assael B, Bombieri C, Brown A, Casals T, Claustres M, Cutting G, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti P, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn S. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179-196
4. Claustres M, Guittard C, Bozon D, Chevallier F, Verlingue C, Férec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldman 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, Des Georges M. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000;16:143-156 (Pubitemid 30604904)
5. Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M. CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet 1997;5:149-155 (Pubitemid 27356702)
6. Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet 1995;4:635-639
7. Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowel PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 1998;339:653-658 (Pubitemid 28402089)
8. Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Brazanga J. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 1998;339:645-652 (Pubitemid 28402088)
9. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:117-133
10. Dean M, White MB, Gerrard B, Stewart C, Khaw K-T, Leppert M. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990;61:863-870 (Pubitemid 20185646)
11. Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh M. Mutations in CFTR associated with mild-disease-form chloride channels with altered pore properties. Nature 1993;362:160-164 (Pubitemid 23969058)
12. Chillon M, Casals T, Mercier B, Brassas 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;332:1475-1480
13. Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J. High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med 1993;328:447-457
14. 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;22:1285-1291 (Pubitemid 47071653)
15. Kiesewetter S, Macek Jr M, 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. Nat Genet 1993;5:274-278 (Pubitemid 23330392)
16. Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J 2001;17:1195-1200 (Pubitemid 32717478)
17. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr 1998;132:589-595 (Pubitemid 28194575)
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;5:101-104
19. O'Sullivan BP, Zwerdling RG, Dorkin HL, Comeau AM, Parad R. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype. Pediatrics 2006;118:1260-1265 (Pubitemid 46090072)
20. Ren CL. Pulmonary manifestations in deltaF508/R117H. Pediatrics 2007;119:647.
21. Munck A, Dhondt J-L, Sahler C, Roussey M. Implementation of the French nationwide cystic fibrosis newborn screeening program. J Pediatr 2008;153:228-233, 233.el.
22. Curnow L, Savarirayan R, Massie J. Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H. Arch Dis Child 2003;88:886-888 (Pubitemid 37194044)
23. Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Giniès JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Férec C. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J Inherit Metab Dis 2007;30:613.
24. Scotet V, Audrézet MP, Roussey M, Rault G, Dirou-Prigent A, Journel H, Moisan-Petit V, Storni V, Férec C. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Pediatrics 2006;118:1523-1529
25. Clinical Laboratory Standards Institute (formerly National Committee for Clinical Laboratory Standards). Sweat testing: sample collection and quantitative analysis. Approved guideline. Document C34-A2.2000.
26. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW 3rd, 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.
27. Witt DR, Schaefer C, Hallam P, Wi S, Blumberg B, Fishbach A, Holtzman J, Kornfeld S, Lee R, Nemzer L, Palmer R. Cystic fibrosis heterozygote screening in 5,161 pregnant women. Am J Hum Genet 1996;58:823-835 (Pubitemid 26086674)
28. Jung A, Kleinau I, Schönian G, Bauernfeind A, Chen C, Griese M, Döring G, Göbel U, Wahn U, Paul K. Sequential genotyping of Pseudomonas aeruginosa from upper and lower airways of cystic fibrosis patients. Eur Respir J 2002;20:1457-1463 (Pubitemid 35460615)
29. Sermet-Gaudelus I, Girodon E, Huet F, Aboutaam R, Bui S, Deneuville E, Guillot M, Vrielynck S, Lenoir G, Edelman A. Nasal potential difference in cystic fibrosis diagnosis of very young children. J Pediatr 2007;150:e34-5.
30. Sermet-Gaudelus I, Roussel D, Bui S, Deneuville E, Huet F, Reix P, Bellon G, Lenoir G, Edelman A. The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening. BMC Pediatr 2006;6:25. (Pubitemid 44566859)
31. Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir JC, Goossens M. Frequent occurrence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 1995;3:285-293
32. Peckham D, Conway SP, Morton A, Jones A, Webb K. Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. J Cyst Fibros 2006;5:63-65 (Pubitemid 43137164)
33. Massie J, Curnow L, Tzanakos N, Francis I, Robertson CF. Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. Arch Dis Child 2005;91:222-225
34. Boyne J, Evans S, Pollitt RJ, Taylor CJ, Dalton A. Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation. J Med Genet 2000;37:543-547 (Pubitemid 30428246)
35. Southern KW, Littlewood JM. Newborn screening programmes for cystic fibrosis. Paediatr Respir Rev 2003;4:299-305. (Pubitemid 37493333)
36. Massie RJ, Olsen M, Glazner J, Robertson CF, Francis I. Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998). Med J Aust 2000;172:584-587
37. Southern KW, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, Castellani C, ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007;6:57-65.