Immunoreactive Trypsin/DNA newborn screening for cystic fibrosis: Should the R117H variant be included in CFTR mutation panels?

Pediatrics

Volumn 118, Issue 5, 2006, Pages

  Scotet, Virginie ^a   Audrézet, Marie Pierre ^a,b   Roussey, Michel ^c   Rault, Gilles ^d   Dirou Prigent, Anne ^d   Journel, Hubert ^e   Moisan Petit, Valérie ^e   Storni, Véronique ^e   Férec, Claude ^a,b,f  

^a INSERM   (France)

^b CHU MORVAN   (France)

^c Centre de Ressource et de Compétences Pour la Mucoviscidose Pédiatrique   (France)

^d Centre de Ressources et de Compétences Sur la Mucoviscidose   (France)

^e Centre de Ressources et de Compétences Sur la Mucoviscidose   (France)

^f ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

Brittany; Cystic fibrosis; Genetic counseling; Newborn screening; R117H

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN;

ARTICLE; CHILD; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA DETERMINATION; FEMALE; FRANCE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; MALE; MEDICAL SPECIALIST; NEWBORN; NEWBORN SCREENING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; GENETIC SCREENING; GENETICS; STANDARD;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; TRYPSIN;

EID: 33750949242     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2005-3161     Document Type: Article

References (25)

1. Scotet V, De Braekeleer M, Roussey M, et al. Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet. 2000;356:789-794
2. Scotet V, Gillet D, Duguépéroux I, et al. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. Hum Genet. 2002;111:247-254
3. 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
4. Munck A, Sahler C, Briard M, Vidailhet M, Farriaux JP. Cystic fibrosis: the French neonatal screening organization, preliminary results [in French]. Arch Pediatr. 2005;12:646-649
5. Comeau AM, Parad RB, Dorkin HL, et al. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004;113:1573-1581
6. Rock MJ, Hoffman G, Laessig RH, Kopish GJ, Litsheim TJ, Farrell PM. Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr. 2005;147(3 suppl):S73-S77
7. Estivill X. Complexity in a monogenic disease. Nat Genet. 1996;12:348-350
8. Kiesewetter S, Macek M, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 1993;5:274-278
9. Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetics basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet. 1993;3:151-156
10. Chu CS, Trapnell BC, Murtagh JJ, et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J. 1991;10:1355-1363
11. Andrieux J, Audrézet MP, Frachon I, et al. Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system. Clin Genet. 2002;62:60-67
12. Anguiano A, Oates RD, Amos JA, et al. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA. 1992;267:1794-1797
13. Jezequel P, Dubourg C, Le Lannou D, et al. Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations. Mol Hum Reprod. 2000;6:1063-1067
14. Feldmann D, Couderc R, Audrézet MP, et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat. 2003;22:340
15. Rodman DM, Polis JM, Heltshe SL, et al. Late diagnosis defines a unique population of long-term survivors of cystic fibrosis. Am J Respir Crit Care Med. 2005;171:621-626
16. Groman JD, Hefferon TW, Casals T, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet. 2004;74:176-179
17. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr. 1998;132:589-595
18. 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
19. Parad RB, Comeau AM, Hawley P, et al. Ramifications of reflective poly-T allele testing among R117H carriers detected by a multiallele IRT/DNA CF newborn screen. The 2002 Newborn Screening and Genetic Testing Symposium; Phoenix, AZ; November 4-7, 2002
20. 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
21. 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
22. Rosenbluth D, Goodenberger D. Cystic fibrosis in an elderly woman. Chest. 1997;112:1124-1126
23. 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
24. Parad RB, Comeau AM, Soultan Z, et al. Outcomes from a cohort of immunoreactive trypsinogen (IRT)/DNA cystic fibrosis newborn screen (CFNBS) positive infants who have R117H as one of two detected CFTR mutations: worrisome oropharyngeal cultures in infants with normal sweat chlorides [abstract]. Pediatr Pulmonol. 2005;S28:256. Abstract 194
25. Chmiel JF, Drumm ML, Konstan MW, Ferkol TW, Kercsmar CM. Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis. Pediatrics. 1999;103:823-826