The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
Identifieur interne : 000928 ( France/Analysis ); précédent : 000927; suivant : 000929The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
Auteurs : C. Thauvin-Robinet [France] ; A. Munck [France] ; F. Huet [France] ; E. Génin [France] ; G. Bellis [France] ; E. Gautier [France] ; M-P Audrézet [France] ; C. Férec [France] ; G. Lalau [France] ; M Des Georges [France] ; M. Claustres [France] ; T. Bienvenu [France] ; B. Gérard [France] ; P. Boisseau [France] ; F. Cabet-Bey [France] ; D. Feldmann [France] ; C. Clavel [France] ; E. Bieth [France] ; A. Iron [France] ; B. Simon-Bouy [France] ; C. Costa [France] ; R. Medina [France] ; J. Leclerc [France] ; D. Hubert [France] ; R. Nové-Josserand [France] ; I. Sermet-Gaudelus [France] ; G. Rault [France] ; J. Flori [France] ; S. Leroy [France] ; N. Wizla [France] ; G. Bellon [France] ; A. Haloun [France] ; S. Perez-Martin [France] ; G. D Cremont [France] ; H. Corvol [France] ; A. Clément [France] ; E. Houssin [France] ; C. Binquet [France] ; C. Bonithon-Kopp [France] ; C. Alberti-Boulmé [France] ; M A Morris [Suisse] ; L. Faivre [France] ; M. Goossens [France] ; M. Roussey [France]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2009-11.
Abstract
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably for R117H, whose disease phenotype varies from asymptomatic to classical CF. The high frequency of R117H observed in CF newborn screening has also introduced diagnostic dilemmas. The aim of this study was to evaluate the disease penetrance for R117H in order to improve clinical practice. Methods: The phenotypes in all individuals identified in France as compound heterozygous for R117H and F508del, the most frequent CF mutation, were described. The allelic prevalences of R117H (pR117H), on either intron 8 T5 or T7 background, and F508del (pF508del) were determined in the French population, to permit an evaluation of the penetrance of CF for the [R117H]+[F508del] genotype. Results: Clinical details were documented for 184 [R117H]+[F508del] individuals, including 72 newborns. The disease phenotype was predominantly mild; one child had classical CF, and three adults’ severe pulmonary symptoms. In 5245 healthy adults, pF508del was 1.06%, pR117H;T7 0.27% and pR117H;T5<0.01%. The theoretical number of [R117H;T7]+[F508del] individuals in the French population was estimated at 3650, whereas only 112 were known with CF related symptoms (3.1%). The penetrance of classical CF for [R117H;T7]+[F508del] was estimated at 0.03% and that of severe CF in adulthood at 0.06%. Conclusions: These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes. The real impact of so-called disease mutations should be assessed before including them in newborn or preconceptional carrier screening programmes.
Url:
DOI: 10.1136/jmg.2009.067215
Affiliations:
- France, Suisse
- Bordeaux, Brest, Créteil, Dijon, Lille, Montpellier, Nantes, Paris, Reims, Rennes, Toulouse
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001786
- to stream Istex, to step Curation: 001786
- to stream Istex, to step Checkpoint: 000227
- to stream Main, to step Merge: 000B56
- to stream Main, to step Curation: 000B49
- to stream Main, to step Exploration: 000B49
- to stream France, to step Extraction: 000928
Links to Exploration step
ISTEX:B853A40FF6E3B3C23256CA6EE8F47DE83882C23DLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening</title><author><name sortKey="Thauvin Robinet, C" sort="Thauvin Robinet, C" uniqKey="Thauvin Robinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name></author><author><name sortKey="Munck, A" sort="Munck, A" uniqKey="Munck A" first="A" last="Munck">A. Munck</name></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name></author><author><name sortKey="Genin, E" sort="Genin, E" uniqKey="Genin E" first="E" last="Génin">E. Génin</name></author><author><name sortKey="Bellis, G" sort="Bellis, G" uniqKey="Bellis G" first="G" last="Bellis">G. Bellis</name></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name></author><author><name sortKey="Audrezet, M P" sort="Audrezet, M P" uniqKey="Audrezet M" first="M-P" last="Audrézet">M-P Audrézet</name></author><author><name sortKey="Ferec, C" sort="Ferec, C" uniqKey="Ferec C" first="C" last="Férec">C. Férec</name></author><author><name sortKey="Lalau, G" sort="Lalau, G" uniqKey="Lalau G" first="G" last="Lalau">G. Lalau</name></author><author><name sortKey="Georges, M Des" sort="Georges, M Des" uniqKey="Georges M" first="M Des" last="Georges">M Des Georges</name></author><author><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M" last="Claustres">M. Claustres</name></author><author><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T" last="Bienvenu">T. Bienvenu</name></author><author><name sortKey="Gerard, B" sort="Gerard, B" uniqKey="Gerard B" first="B" last="Gérard">B. Gérard</name></author><author><name sortKey="Boisseau, P" sort="Boisseau, P" uniqKey="Boisseau P" first="P" last="Boisseau">P. Boisseau</name></author><author><name sortKey="Cabet Bey, F" sort="Cabet Bey, F" uniqKey="Cabet Bey F" first="F" last="Cabet-Bey">F. Cabet-Bey</name></author><author><name sortKey="Feldmann, D" sort="Feldmann, D" uniqKey="Feldmann D" first="D" last="Feldmann">D. Feldmann</name></author><author><name sortKey="Clavel, C" sort="Clavel, C" uniqKey="Clavel C" first="C" last="Clavel">C. Clavel</name></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name></author><author><name sortKey="Iron, A" sort="Iron, A" uniqKey="Iron A" first="A" last="Iron">A. Iron</name></author><author><name sortKey="Simon Bouy, B" sort="Simon Bouy, B" uniqKey="Simon Bouy B" first="B" last="Simon-Bouy">B. Simon-Bouy</name></author><author><name sortKey="Costa, C" sort="Costa, C" uniqKey="Costa C" first="C" last="Costa">C. Costa</name></author><author><name sortKey="Medina, R" sort="Medina, R" uniqKey="Medina R" first="R" last="Medina">R. Medina</name></author><author><name sortKey="Leclerc, J" sort="Leclerc, J" uniqKey="Leclerc J" first="J" last="Leclerc">J. Leclerc</name></author><author><name sortKey="Hubert, D" sort="Hubert, D" uniqKey="Hubert D" first="D" last="Hubert">D. Hubert</name></author><author><name sortKey="Nove Josserand, R" sort="Nove Josserand, R" uniqKey="Nove Josserand R" first="R" last="Nové-Josserand">R. Nové-Josserand</name></author><author><name sortKey="Sermet Gaudelus, I" sort="Sermet Gaudelus, I" uniqKey="Sermet Gaudelus I" first="I" last="Sermet-Gaudelus">I. Sermet-Gaudelus</name></author><author><name sortKey="Rault, G" sort="Rault, G" uniqKey="Rault G" first="G" last="Rault">G. Rault</name></author><author><name sortKey="Flori, J" sort="Flori, J" uniqKey="Flori J" first="J" last="Flori">J. Flori</name></author><author><name sortKey="Leroy, S" sort="Leroy, S" uniqKey="Leroy S" first="S" last="Leroy">S. Leroy</name></author><author><name sortKey="Wizla, N" sort="Wizla, N" uniqKey="Wizla N" first="N" last="Wizla">N. Wizla</name></author><author><name sortKey="Bellon, G" sort="Bellon, G" uniqKey="Bellon G" first="G" last="Bellon">G. Bellon</name></author><author><name sortKey="Haloun, A" sort="Haloun, A" uniqKey="Haloun A" first="A" last="Haloun">A. Haloun</name></author><author><name sortKey="Perez Martin, S" sort="Perez Martin, S" uniqKey="Perez Martin S" first="S" last="Perez-Martin">S. Perez-Martin</name></author><author><name sortKey="D Cremont, G" sort="D Cremont, G" uniqKey="D Cremont G" first="G" last="D Cremont">G. D Cremont</name></author><author><name sortKey="Corvol, H" sort="Corvol, H" uniqKey="Corvol H" first="H" last="Corvol">H. Corvol</name></author><author><name sortKey="Clement, A" sort="Clement, A" uniqKey="Clement A" first="A" last="Clément">A. Clément</name></author><author><name sortKey="Houssin, E" sort="Houssin, E" uniqKey="Houssin E" first="E" last="Houssin">E. Houssin</name></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name></author><author><name sortKey="Bonithon Kopp, C" sort="Bonithon Kopp, C" uniqKey="Bonithon Kopp C" first="C" last="Bonithon-Kopp">C. Bonithon-Kopp</name></author><author><name sortKey="Alberti Boulme, C" sort="Alberti Boulme, C" uniqKey="Alberti Boulme C" first="C" last="Alberti-Boulmé">C. Alberti-Boulmé</name></author><author><name sortKey="Morris, M A" sort="Morris, M A" uniqKey="Morris M" first="M A" last="Morris">M A Morris</name></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name></author><author><name sortKey="Goossens, M" sort="Goossens, M" uniqKey="Goossens M" first="M" last="Goossens">M. Goossens</name></author><author><name sortKey="Roussey, M" sort="Roussey, M" uniqKey="Roussey M" first="M" last="Roussey">M. Roussey</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B853A40FF6E3B3C23256CA6EE8F47DE83882C23D</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1136/jmg.2009.067215</idno><idno type="url">https://api.istex.fr/document/B853A40FF6E3B3C23256CA6EE8F47DE83882C23D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001786</idno><idno type="wicri:Area/Istex/Curation">001786</idno><idno type="wicri:Area/Istex/Checkpoint">000227</idno><idno type="wicri:doubleKey">0022-2593:2009:Thauvin Robinet C:the:very:low</idno><idno type="wicri:Area/Main/Merge">000B56</idno><idno type="wicri:Area/Main/Curation">000B49</idno><idno type="wicri:Area/Main/Exploration">000B49</idno><idno type="wicri:Area/France/Extraction">000928</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening</title><author><name sortKey="Thauvin Robinet, C" sort="Thauvin Robinet, C" uniqKey="Thauvin Robinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU de Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation></author><author><name sortKey="Munck, A" sort="Munck, A" uniqKey="Munck A" first="A" last="Munck">A. Munck</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>AFDPHE, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de gastro-entérologie-mucoviscidose et nutrition pédiatriques, Hôpital Robert Debré, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>AFDPHE, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM – Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Genin, E" sort="Genin, E" uniqKey="Genin E" first="E" last="Génin">E. Génin</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Inserm U794 et Fondation Jean Dausset/CEPH, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bellis, G" sort="Bellis, G" uniqKey="Bellis G" first="G" last="Bellis">G. Bellis</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INED, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Unité INSERM U866 CIE1, Faculté de médecine de Dijon, CHU Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Audrezet, M P" sort="Audrezet, M P" uniqKey="Audrezet M" first="M-P" last="Audrézet">M-P Audrézet</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire et d’Histocompatibilité, CHU de Brest, Brest</wicri:regionArea><placeName><settlement type="city">Brest</settlement></placeName></affiliation></author><author><name sortKey="Ferec, C" sort="Ferec, C" uniqKey="Ferec C" first="C" last="Férec">C. Férec</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire et d’Histocompatibilité, CHU de Brest, Brest</wicri:regionArea><placeName><settlement type="city">Brest</settlement></placeName></affiliation></author><author><name sortKey="Lalau, G" sort="Lalau, G" uniqKey="Lalau G" first="G" last="Lalau">G. Lalau</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie Pathologie, CHU de Lille, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Georges, M Des" sort="Georges, M Des" uniqKey="Georges M" first="M Des" last="Georges">M Des Georges</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, IURC, CHU de Montpellier, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M" last="Claustres">M. Claustres</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, IURC, CHU de Montpellier, Montpellier</wicri:regionArea><placeName><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T" last="Bienvenu">T. Bienvenu</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie-Génétique, Hôpital Cochin, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Gerard, B" sort="Gerard, B" uniqKey="Gerard B" first="B" last="Gérard">B. Gérard</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie Génétique, Hôpital Robert Debré, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Boisseau, P" sort="Boisseau, P" uniqKey="Boisseau P" first="P" last="Boisseau">P. Boisseau</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Laboratoire de Génétique Moléculaire, CHU Hôtel Dieu, Nantes</wicri:regionArea><placeName><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Cabet Bey, F" sort="Cabet Bey, F" uniqKey="Cabet Bey F" first="F" last="Cabet-Bey">F. Cabet-Bey</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service d’Endocrinologie Moléculaire et Maladies rares, Centre de Biologie et Pathologie Est, CHU de Lyon, Bron</wicri:regionArea><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></affiliation></author><author><name sortKey="Feldmann, D" sort="Feldmann, D" uniqKey="Feldmann D" first="D" last="Feldmann">D. Feldmann</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biochimie et Biologie Moléculaire, Hôpital d’Enfants Armand Trousseau, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Clavel, C" sort="Clavel, C" uniqKey="Clavel C" first="C" last="Clavel">C. Clavel</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire Pol Bouin, UF Biologie Cellulaire, Hôpital de la Maison Blanche, CHU de Reims, Reims</wicri:regionArea><placeName><settlement type="city">Reims</settlement></placeName></affiliation></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, Hôpital Purpan, CHU de Toulouse, Toulouse</wicri:regionArea><placeName><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Iron, A" sort="Iron, A" uniqKey="Iron A" first="A" last="Iron">A. Iron</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, Groupe Hospitalier Pellegrin, CHU de Bordeaux, Bordeaux</wicri:regionArea><placeName><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Simon Bouy, B" sort="Simon Bouy, B" uniqKey="Simon Bouy B" first="B" last="Simon-Bouy">B. Simon-Bouy</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire SESEP, Centre hospitalier de Versailles, Le Chesnay</wicri:regionArea><wicri:noRegion>Le Chesnay</wicri:noRegion><wicri:noRegion>Le Chesnay</wicri:noRegion></affiliation></author><author><name sortKey="Costa, C" sort="Costa, C" uniqKey="Costa C" first="C" last="Costa">C. Costa</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Biochimie-Génétique et Inserm U955 équipe 11, Groupe Henri Mondor-Albert Chenevier, APHP, Créteil</wicri:regionArea><placeName><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Medina, R" sort="Medina, R" uniqKey="Medina R" first="R" last="Medina">R. Medina</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Biochimie-Génétique et Inserm U955 équipe 11, Groupe Henri Mondor-Albert Chenevier, APHP, Créteil</wicri:regionArea><placeName><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Leclerc, J" sort="Leclerc, J" uniqKey="Leclerc J" first="J" last="Leclerc">J. Leclerc</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie Pathologie, CHU de Lille, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Hubert, D" sort="Hubert, D" uniqKey="Hubert D" first="D" last="Hubert">D. Hubert</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de Pneumologie, Hôpital Cochin, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nove Josserand, R" sort="Nove Josserand, R" uniqKey="Nove Josserand R" first="R" last="Nové-Josserand">R. Nové-Josserand</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de Médecine interne, Centre hospitalier Lyon sud, Pierre-Bénite</wicri:regionArea><wicri:noRegion>Pierre-Bénite</wicri:noRegion><wicri:noRegion>Pierre-Bénite</wicri:noRegion></affiliation></author><author><name sortKey="Sermet Gaudelus, I" sort="Sermet Gaudelus, I" uniqKey="Sermet Gaudelus I" first="I" last="Sermet-Gaudelus">I. Sermet-Gaudelus</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de Pédiatrie générale, Hôpital Necker-Enfants-Malades, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Rault, G" sort="Rault, G" uniqKey="Rault G" first="G" last="Rault">G. Rault</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Centre de Perharidy, Roscoff</wicri:regionArea><wicri:noRegion>Roscoff</wicri:noRegion><wicri:noRegion>Roscoff</wicri:noRegion></affiliation></author><author><name sortKey="Flori, J" sort="Flori, J" uniqKey="Flori J" first="J" last="Flori">J. Flori</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Néonatologie, SIHCUS – CMCO, Schiltigheim</wicri:regionArea><wicri:noRegion>Schiltigheim</wicri:noRegion><wicri:noRegion>Schiltigheim</wicri:noRegion></affiliation></author><author><name sortKey="Leroy, S" sort="Leroy, S" uniqKey="Leroy S" first="S" last="Leroy">S. Leroy</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de pneumologie et immunoallergologie, CHRU de Lille, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Wizla, N" sort="Wizla, N" uniqKey="Wizla N" first="N" last="Wizla">N. Wizla</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Clinique de pédiatrie, CHRU de Lille, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Bellon, G" sort="Bellon, G" uniqKey="Bellon G" first="G" last="Bellon">G. Bellon</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM Lyon Pédiatrie, Groupement Hospitalier Lyon Est, Bron</wicri:regionArea><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></affiliation></author><author><name sortKey="Haloun, A" sort="Haloun, A" uniqKey="Haloun A" first="A" last="Haloun">A. Haloun</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Unité de transplantation thoracique, CHU Hôpital Guillaume et René Laënnec, Nantes</wicri:regionArea><placeName><settlement type="city">Nantes</settlement></placeName></affiliation></author><author><name sortKey="Perez Martin, S" sort="Perez Martin, S" uniqKey="Perez Martin S" first="S" last="Perez-Martin">S. Perez-Martin</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM – Service de Pédiatrie 1, Hôpital d’Enfants, CHU Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="D Cremont, G" sort="D Cremont, G" uniqKey="D Cremont G" first="G" last="D Cremont">G. D Cremont</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de Pédiatrie, CHI de Créteil</wicri:regionArea><wicri:noRegion>CHI de Créteil</wicri:noRegion><wicri:noRegion>CHI de Créteil</wicri:noRegion></affiliation></author><author><name sortKey="Corvol, H" sort="Corvol, H" uniqKey="Corvol H" first="H" last="Corvol">H. Corvol</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de pneumologie pédiatrique, Hôpital d’Enfants Armand-Trousseau, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Clement, A" sort="Clement, A" uniqKey="Clement A" first="A" last="Clément">A. Clément</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Service de pneumologie pédiatrique, Hôpital d’Enfants Armand-Trousseau, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Houssin, E" sort="Houssin, E" uniqKey="Houssin E" first="E" last="Houssin">E. Houssin</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>AFDPHE, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Unité INSERM U866 CIE1, Faculté de médecine de Dijon, CHU Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Bonithon Kopp, C" sort="Bonithon Kopp, C" uniqKey="Bonithon Kopp C" first="C" last="Bonithon-Kopp">C. Bonithon-Kopp</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Unité INSERM U866 CIE1, Faculté de médecine de Dijon, CHU Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Alberti Boulme, C" sort="Alberti Boulme, C" uniqKey="Alberti Boulme C" first="C" last="Alberti-Boulmé">C. Alberti-Boulmé</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre d’Epidémiologie Clinique, Hôpital Robert Debré, APHP, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Morris, M A" sort="Morris, M A" uniqKey="Morris M" first="M A" last="Morris">M A Morris</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Laboratoire de Diagnostic moléculaire, Service de Médecine Génétique, Hôpitaux Universitaires, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, CHU de Dijon, Dijon</wicri:regionArea><placeName><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Goossens, M" sort="Goossens, M" uniqKey="Goossens M" first="M" last="Goossens">M. Goossens</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Laboratory Network</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Biochimie-Génétique et Inserm U955 équipe 11, Groupe Henri Mondor-Albert Chenevier, APHP, Créteil</wicri:regionArea><placeName><settlement type="city">Créteil</settlement></placeName></affiliation></author><author><name sortKey="Roussey, M" sort="Roussey, M" uniqKey="Roussey M" first="M" last="Roussey">M. Roussey</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>AFDPHE, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>French CF Care Centres</wicri:regionArea></affiliation><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>CRCM - Département de médecine de l’enfant et de l’adolescent, CHU de Rennes - Hôpital Sud, Rennes</wicri:regionArea><placeName><settlement type="city">Rennes</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2009-11">2009-11</date><biblScope unit="volume">46</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="752">752</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">B853A40FF6E3B3C23256CA6EE8F47DE83882C23D</idno><idno type="DOI">10.1136/jmg.2009.067215</idno><idno type="href">jmedgenet-46-752.pdf</idno><idno type="ArticleID">mg67215</idno><idno type="PMID">19880712</idno><idno type="local">jmedgenet;46/11/752</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability associated with certain mutations makes genetic counselling difficult, notably for R117H, whose disease phenotype varies from asymptomatic to classical CF. The high frequency of R117H observed in CF newborn screening has also introduced diagnostic dilemmas. The aim of this study was to evaluate the disease penetrance for R117H in order to improve clinical practice. Methods: The phenotypes in all individuals identified in France as compound heterozygous for R117H and F508del, the most frequent CF mutation, were described. The allelic prevalences of R117H (pR117H), on either intron 8 T5 or T7 background, and F508del (pF508del) were determined in the French population, to permit an evaluation of the penetrance of CF for the [R117H]+[F508del] genotype. Results: Clinical details were documented for 184 [R117H]+[F508del] individuals, including 72 newborns. The disease phenotype was predominantly mild; one child had classical CF, and three adults’ severe pulmonary symptoms. In 5245 healthy adults, pF508del was 1.06%, pR117H;T7 0.27% and pR117H;T5<0.01%. The theoretical number of [R117H;T7]+[F508del] individuals in the French population was estimated at 3650, whereas only 112 were known with CF related symptoms (3.1%). The penetrance of classical CF for [R117H;T7]+[F508del] was estimated at 0.03% and that of severe CF in adulthood at 0.06%. Conclusions: These results suggest that R117H should be withdrawn from CF mutation panels used for screening programmes. The real impact of so-called disease mutations should be assessed before including them in newborn or preconceptional carrier screening programmes.</div></front></TEI><affiliations><list><country><li>France</li><li>Suisse</li></country><settlement><li>Bordeaux</li><li>Brest</li><li>Créteil</li><li>Dijon</li><li>Lille</li><li>Montpellier</li><li>Nantes</li><li>Paris</li><li>Reims</li><li>Rennes</li><li>Toulouse</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Thauvin Robinet, C" sort="Thauvin Robinet, C" uniqKey="Thauvin Robinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name></noRegion><name sortKey="Alberti Boulme, C" sort="Alberti Boulme, C" uniqKey="Alberti Boulme C" first="C" last="Alberti-Boulmé">C. Alberti-Boulmé</name><name sortKey="Audrezet, M P" sort="Audrezet, M P" uniqKey="Audrezet M" first="M-P" last="Audrézet">M-P Audrézet</name><name sortKey="Audrezet, M P" sort="Audrezet, M P" uniqKey="Audrezet M" first="M-P" last="Audrézet">M-P Audrézet</name><name sortKey="Bellis, G" sort="Bellis, G" uniqKey="Bellis G" first="G" last="Bellis">G. Bellis</name><name sortKey="Bellon, G" sort="Bellon, G" uniqKey="Bellon G" first="G" last="Bellon">G. Bellon</name><name sortKey="Bellon, G" sort="Bellon, G" uniqKey="Bellon G" first="G" last="Bellon">G. Bellon</name><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T" last="Bienvenu">T. Bienvenu</name><name sortKey="Bienvenu, T" sort="Bienvenu, T" uniqKey="Bienvenu T" first="T" last="Bienvenu">T. Bienvenu</name><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name><name sortKey="Binquet, C" sort="Binquet, C" uniqKey="Binquet C" first="C" last="Binquet">C. Binquet</name><name sortKey="Boisseau, P" sort="Boisseau, P" uniqKey="Boisseau P" first="P" last="Boisseau">P. Boisseau</name><name sortKey="Boisseau, P" sort="Boisseau, P" uniqKey="Boisseau P" first="P" last="Boisseau">P. Boisseau</name><name sortKey="Bonithon Kopp, C" sort="Bonithon Kopp, C" uniqKey="Bonithon Kopp C" first="C" last="Bonithon-Kopp">C. Bonithon-Kopp</name><name sortKey="Cabet Bey, F" sort="Cabet Bey, F" uniqKey="Cabet Bey F" first="F" last="Cabet-Bey">F. Cabet-Bey</name><name sortKey="Cabet Bey, F" sort="Cabet Bey, F" uniqKey="Cabet Bey F" first="F" last="Cabet-Bey">F. Cabet-Bey</name><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M" last="Claustres">M. Claustres</name><name sortKey="Claustres, M" sort="Claustres, M" uniqKey="Claustres M" first="M" last="Claustres">M. Claustres</name><name sortKey="Clavel, C" sort="Clavel, C" uniqKey="Clavel C" first="C" last="Clavel">C. Clavel</name><name sortKey="Clavel, C" sort="Clavel, C" uniqKey="Clavel C" first="C" last="Clavel">C. Clavel</name><name sortKey="Clement, A" sort="Clement, A" uniqKey="Clement A" first="A" last="Clément">A. Clément</name><name sortKey="Clement, A" sort="Clement, A" uniqKey="Clement A" first="A" last="Clément">A. Clément</name><name sortKey="Corvol, H" sort="Corvol, H" uniqKey="Corvol H" first="H" last="Corvol">H. Corvol</name><name sortKey="Corvol, H" sort="Corvol, H" uniqKey="Corvol H" first="H" last="Corvol">H. Corvol</name><name sortKey="Costa, C" sort="Costa, C" uniqKey="Costa C" first="C" last="Costa">C. Costa</name><name sortKey="Costa, C" sort="Costa, C" uniqKey="Costa C" first="C" last="Costa">C. Costa</name><name sortKey="D Cremont, G" sort="D Cremont, G" uniqKey="D Cremont G" first="G" last="D Cremont">G. D Cremont</name><name sortKey="D Cremont, G" sort="D Cremont, G" uniqKey="D Cremont G" first="G" last="D Cremont">G. D Cremont</name><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><name sortKey="Feldmann, D" sort="Feldmann, D" uniqKey="Feldmann D" first="D" last="Feldmann">D. Feldmann</name><name sortKey="Feldmann, D" sort="Feldmann, D" uniqKey="Feldmann D" first="D" last="Feldmann">D. Feldmann</name><name sortKey="Ferec, C" sort="Ferec, C" uniqKey="Ferec C" first="C" last="Férec">C. Férec</name><name sortKey="Ferec, C" sort="Ferec, C" uniqKey="Ferec C" first="C" last="Férec">C. Férec</name><name sortKey="Flori, J" sort="Flori, J" uniqKey="Flori J" first="J" last="Flori">J. Flori</name><name sortKey="Gautier, E" sort="Gautier, E" uniqKey="Gautier E" first="E" last="Gautier">E. Gautier</name><name sortKey="Genin, E" sort="Genin, E" uniqKey="Genin E" first="E" last="Génin">E. Génin</name><name sortKey="Georges, M Des" sort="Georges, M Des" uniqKey="Georges M" first="M Des" last="Georges">M Des Georges</name><name sortKey="Georges, M Des" sort="Georges, M Des" uniqKey="Georges M" first="M Des" last="Georges">M Des Georges</name><name sortKey="Gerard, B" sort="Gerard, B" uniqKey="Gerard B" first="B" last="Gérard">B. Gérard</name><name sortKey="Gerard, B" sort="Gerard, B" uniqKey="Gerard B" first="B" last="Gérard">B. Gérard</name><name sortKey="Goossens, M" sort="Goossens, M" uniqKey="Goossens M" first="M" last="Goossens">M. Goossens</name><name sortKey="Goossens, M" sort="Goossens, M" uniqKey="Goossens M" first="M" last="Goossens">M. Goossens</name><name sortKey="Haloun, A" sort="Haloun, A" uniqKey="Haloun A" first="A" last="Haloun">A. Haloun</name><name sortKey="Haloun, A" sort="Haloun, A" uniqKey="Haloun A" first="A" last="Haloun">A. Haloun</name><name sortKey="Houssin, E" sort="Houssin, E" uniqKey="Houssin E" first="E" last="Houssin">E. Houssin</name><name sortKey="Hubert, D" sort="Hubert, D" uniqKey="Hubert D" first="D" last="Hubert">D. Hubert</name><name sortKey="Hubert, D" sort="Hubert, D" uniqKey="Hubert D" first="D" last="Hubert">D. Hubert</name><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name><name sortKey="Iron, A" sort="Iron, A" uniqKey="Iron A" first="A" last="Iron">A. Iron</name><name sortKey="Iron, A" sort="Iron, A" uniqKey="Iron A" first="A" last="Iron">A. Iron</name><name sortKey="Lalau, G" sort="Lalau, G" uniqKey="Lalau G" first="G" last="Lalau">G. Lalau</name><name sortKey="Lalau, G" sort="Lalau, G" uniqKey="Lalau G" first="G" last="Lalau">G. Lalau</name><name sortKey="Leclerc, J" sort="Leclerc, J" uniqKey="Leclerc J" first="J" last="Leclerc">J. Leclerc</name><name sortKey="Leclerc, J" sort="Leclerc, J" uniqKey="Leclerc J" first="J" last="Leclerc">J. Leclerc</name><name sortKey="Leroy, S" sort="Leroy, S" uniqKey="Leroy S" first="S" last="Leroy">S. Leroy</name><name sortKey="Leroy, S" sort="Leroy, S" uniqKey="Leroy S" first="S" last="Leroy">S. Leroy</name><name sortKey="Medina, R" sort="Medina, R" uniqKey="Medina R" first="R" last="Medina">R. Medina</name><name sortKey="Munck, A" sort="Munck, A" uniqKey="Munck A" first="A" last="Munck">A. Munck</name><name sortKey="Munck, A" sort="Munck, A" uniqKey="Munck A" first="A" last="Munck">A. Munck</name><name sortKey="Munck, A" sort="Munck, A" uniqKey="Munck A" first="A" last="Munck">A. Munck</name><name sortKey="Nove Josserand, R" sort="Nove Josserand, R" uniqKey="Nove Josserand R" first="R" last="Nové-Josserand">R. Nové-Josserand</name><name sortKey="Nove Josserand, R" sort="Nove Josserand, R" uniqKey="Nove Josserand R" first="R" last="Nové-Josserand">R. Nové-Josserand</name><name sortKey="Perez Martin, S" sort="Perez Martin, S" uniqKey="Perez Martin S" first="S" last="Perez-Martin">S. Perez-Martin</name><name sortKey="Perez Martin, S" sort="Perez Martin, S" uniqKey="Perez Martin S" first="S" last="Perez-Martin">S. Perez-Martin</name><name sortKey="Rault, G" sort="Rault, G" uniqKey="Rault G" first="G" last="Rault">G. Rault</name><name sortKey="Rault, G" sort="Rault, G" uniqKey="Rault G" first="G" last="Rault">G. Rault</name><name sortKey="Roussey, M" sort="Roussey, M" uniqKey="Roussey M" first="M" last="Roussey">M. Roussey</name><name sortKey="Roussey, M" sort="Roussey, M" uniqKey="Roussey M" first="M" last="Roussey">M. Roussey</name><name sortKey="Roussey, M" sort="Roussey, M" uniqKey="Roussey M" first="M" last="Roussey">M. Roussey</name><name sortKey="Sermet Gaudelus, I" sort="Sermet Gaudelus, I" uniqKey="Sermet Gaudelus I" first="I" last="Sermet-Gaudelus">I. Sermet-Gaudelus</name><name sortKey="Sermet Gaudelus, I" sort="Sermet Gaudelus, I" uniqKey="Sermet Gaudelus I" first="I" last="Sermet-Gaudelus">I. Sermet-Gaudelus</name><name sortKey="Simon Bouy, B" sort="Simon Bouy, B" uniqKey="Simon Bouy B" first="B" last="Simon-Bouy">B. Simon-Bouy</name><name sortKey="Simon Bouy, B" sort="Simon Bouy, B" uniqKey="Simon Bouy B" first="B" last="Simon-Bouy">B. Simon-Bouy</name><name sortKey="Thauvin Robinet, C" sort="Thauvin Robinet, C" uniqKey="Thauvin Robinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name><name sortKey="Wizla, N" sort="Wizla, N" uniqKey="Wizla N" first="N" last="Wizla">N. Wizla</name><name sortKey="Wizla, N" sort="Wizla, N" uniqKey="Wizla N" first="N" last="Wizla">N. Wizla</name></country><country name="Suisse"><noRegion><name sortKey="Morris, M A" sort="Morris, M A" uniqKey="Morris M" first="M A" last="Morris">M A Morris</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/France/explor/LeHavreV1/Data/France/Analysis
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000928 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000928 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/France
|area= LeHavreV1
|flux= France
|étape= Analysis
|type= RBID
|clé= ISTEX:B853A40FF6E3B3C23256CA6EE8F47DE83882C23D
|texte= The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
}}
| This area was generated with Dilib version V0.6.25. |  |