ERRATUM: Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: Implications for diagnosis, genetic counseling, and mutation-specific therapy (Genet Med (2014) DOI:10.1038/gim.2014.113);Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: Implications for diagnosis, genetic counseling, and mutation-specific therapy

Genetics in Medicine

Volumn 17, Issue 2, 2015, Pages 108-116

  Audrézet, Marie Pierre ^a,b   Munck, Anne ^c,d   Scotet, Virginie ^b,e,f   Claustres, Mireille ^g,h,i   Roussey, Michel ^c,j   Delmas, Dominique ^c   Férec, Claude ^a,b,e,f   Desgeorges, Marie ^g,h,i  

^a BREST UNIVERSITY HOSPITAL   (France)

^b French Blood Agency   (France)

^c Association Française Pour Le Depistage et la Prevention des Handicaps de l'Enfant   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^f ETABLISSEMENT FRANÇAIS DU SANG   (France)

^g MONTPELLIER UNIVERSITY HOSPITAL   (France)

^h UNIVERSITÉ DE MONTPELLIER   (France)

ⁱ UNIV MONTPELLIER   (France)

^j SERVICE DE RHUMATOLOGIE   (France)

more..

Author keywords

Allelic heterogeneity; Cystic fibrosis; Immunoreactive trypsin; Incidence; Newborn screening

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; EXON; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FRANCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; INCIDENCE; LIVE BIRTH; MAJOR CLINICAL STUDY; MECONIUM ILEUS; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; QUESTIONNAIRE; SENSITIVITY AND SPECIFICITY; SWEAT TEST;

EID: 84964307847     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.137     Document Type: Erratum

References (33)

1. Cutting GR. Genetic heterogeneity and cystic fibrosis. Hum Mutat 2009;30:v.
2. Sims EJ, Clark A, McCormick J, Mehta G, Connett G, Mehta A; United Kingdom Cystic Fibrosis Database Steering Committee. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics 2007;119:19.28.
3. Accurso FJ, Sontag MK, Wagener JS. Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr 2005;147(suppl 3):S37.S41.
4. Lai HJ, Cheng Y, Farrell PM. The survival advantage of patients with cystic fibrosis diagnosed through neonatal screening: evidence from the United States Cystic Fibrosis Foundation registry data. J Pediatr 2005;147(suppl 3): S57.S63.
5. Balfour-Lynn IM. Newborn screening for cystic fibrosis: evidence for benefit. Arch Dis Child 2008;93:7.10.
6. Dijk FN, McKay K, Barzi F, Gaskin KJ, Fitzgerald DA. Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre. Arch Dis Child 2011;96:1118.1123.
7. Ferec C, Verlingue C, Parent P, et al. Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses. Hum Genet 1995;96:542.548.
8. Scotet V, de Braekeleer M, Roussey M, et al. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 yearsf experience and impact on prenatal diagnosis. Lancet 2000;356:789.794.
9. Audrezet MP, Costes B, Ghanem N, et al. Screening for cystic fibrosis in dried blood spots of newborns. Mol Cell Probes 1993;7:497.502.
10. Farriaux JP, Vidailhet M, Briard ML, Belot V, Dhondt JL. Neonatal screening for cystic fibrosis: France rises to the challenge. J Inherit Metab Dis 2003;26:729. 744.
11. Munck A, Dhondt JL, Sahler C, Roussey M. Implementation of the French nationwide cystic fibrosis newborn screening program. J Pediatr 2008;153:228. 33, 233.e1.
12. Claustres M, Guittard C, Bozon D, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000;16:143.156.
13. De Boeck K, Wilschanski M, Castellani C, et al.; Diagnostic Working Group. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627.635.
14. Southern KW, Munck A, Pollitt R, et al.; ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007;6:57.65.
15. Farrell PM, Rosenstein BJ, White TB, et al.; Cystic Fibrosis Foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153:S4.S14.
16. Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008;7:179.196.
17. Audrezet MP, Mercier B, Guillermit H, et al. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet 1993;2:51.54.
18. Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001;108:290.298.
19. Audrezet MP, Dabricot A, Le Marechal C, Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Mol Diagn 2008;10:424.434.
20. Audrezet MP, Chen JM, Raguenes O, et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004;23:343.357.
21. Sermet-Gaudelus I, Munck A, Rota M, Roussey M, Feldmann D, Nguyen-Khoa T; Groupe de travail gDepistage neonatalh de la Federation des centres de ressources et de competences de la mucoviscidose. [French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening]. Arch Pediatr 2010;17:1349.1358.
22. Dequeker E, Stuhrmann M, Morris MA, et al. 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.
23. Ferec C, Cutting GR. Assessing the disease-liability of mutations in CFTR. Cold Spring Harb Perspect Med 2012;2:a009480.
24. Bareil C, Theze C, Beroud C, et al. UMD-CFTR: a database dedicated to CF and CFTR-related disorders. Hum Mutat 2010;31:1011.1019.
25. Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993;5:274. 278.
26. 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.
27. Welsh MJ, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Basis of Inherited Disease. 8th edn. McGraw-Hill: New York, 2001:5121.5188.
28. Prach L, Koepke R, Kharrazi M, et al.; California Cystic Fibrosis Newborn Screening Consortium. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn 2013;15:710.722.
29. K.enkova P, Piska.kova T, Holubova A, et al. Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. J Cyst Fibros 2013;12:532.537.
30. Massie RJ, Curnow L, Glazner J, Armstrong DS, Francis I. Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 2012;196:67.70.
31. Thauvin-Robinet C, Munck A, Huet F, et al.; Collaborating Working Group on R117H. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009;46:752.758.
32. Thursfield RM, Davies JC. Cystic fibrosis: therapies targeting specific gene defects. Paediatr Respir Rev 2012;13:215.219.
33. Ramsey BW, Davies J, McElvaney NG, et al.; VX08-770-102 Study Group. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011;365:1663.1672.