Non-classic cystic fibrosis associated with D1152H CFTR mutation

Clinical Genetics

Volumn 77, Issue 4, 2010, Pages 355-364

  Burgel, P R ^a   Fajac, I ^a   Hubert, D ^a   Grenet, D ^b   Stremler, N ^c   Roussey, M ^d   Siret, D ^e   Languepin, J ^f   Mely, L ^g   Fanton, A ^h   Labbe A ⁱ   Domblides, P ^j   Vic, P ^k   Dagorne, M ^d   Reynaud Gaubert, M ^l   Counil, F ^m   Varaigne, F ⁿ   Bienvenu, T ^a   Bellis, G ^o   Dusser, D ^a  

^a Université Paris Descartes ^*  (France)

^b FOCH HOSPITAL   (France)

^c TIMONE HOSPITAL   (France)

^d UNIVERSITÉ DE RENNES 1   (France)

^e CH de St Nazaire ^*  (France)

^f LIMOGES UNIVERSITY HOSPITAL   (France)

^g CRCM du Var   (France)

^h UNIVERSITÉ DE BOURGOGNE   (France)

ⁱ UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^j BORDEAUX UNIVERSITY HOSPITAL   (France)

^k Centre Hospitalier de Cornouaille   (France)

^l HÔPITAL SAINTE MARGUERITE   (France)

^m HÔPITAL ARNAUD DE VILLENEUVE   (France)

ⁿ CHU BRETONNEAU   (France)

^o INSTITUT NATIONAL D'ÉTUDES DÉMOGRAPHIQUES   (France)

more..

Author keywords

Bronchiectasis; Congenital absence of the vas deferens; Cystic fibrosis transmembrane conductance regulator; D1152H; Exocrine pancreatic insufficiency

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ARTICLE; BACTERIAL COLONIZATION; BRONCHIECTASIS; CLINICAL ARTICLE; CONGENITAL ABSENCE OF THE VAS DEFERENS; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; FORCED EXPIRATORY VOLUME; GENE MUTATION; GENETIC SCREENING; HUMAN; LUNG TRANSPLANTATION; MALE; NEWBORN SCREENING; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; UROGENITAL TRACT MALFORMATION;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CHLORIDES; COHORT STUDIES; CONSENSUS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FORCED EXPIRATORY VOLUME; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MUTATION; NASAL MUCOSA; SWEAT; YOUNG ADULT;

PSEUDOMONAS AERUGINOSA;

EID: 77951707348     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01294.x     Document Type: Article

References (31)

1. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005, 352:1992-2001.
2. Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006, 173:475-482.
3. Knowles MR, Durie PR. What is cystic fibrosis. N Engl J Med 2002, 347:439-442.
4. Zeitlin PL. Future pharmacological treatment of cystic fibrosis. Respiration 2000, 67:351-357.
5. McKone EF, Emerson SS, Edwards KL. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
6. McKone EF, Goss CH, Aitken ML. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest 2006, 130:1441-1447.
7. De Boeck K, Wilschanski M, Castellani C. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006, 61:627-635.
8. de Gracia J, Mata F, Alvarez A. Genotype-phenotype correlation for pulmonary function in cystic fibrosis. Thorax 2005, 60:558-563.
9. Vankeerberghen A, Wei L, Teng H. Characterization of mutations located in exon 18 of the CFTR gene. FEBS Lett 1998, 437:1-4.
10. Farrell PM, Rosenstein BJ, White TB. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008, 153:S4-S14.
11. Castellani C, Cuppens H, Macek MJ. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008, 7:179-196.
12. Kornreich R, Ekstein J, Edelmann L. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. Genet Med 2004, 6:415-420.
13. Sugarman EA, Rohlfs EM, Silverman LM. CFTR mutation distribution among US Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004, 6:392-399.
14. Highsmith WEJ, Friedman KJ, Burch LH. A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides. Clin Genet 2005, 68:88-90.
15. Mussaffi H, Prais D, Mei-Zahav M. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006, 41:250-254.
16. Feldmann D, Rochemaure J, Plouvier E. Mild course of cystic fibrosis in an adult with the D1152H mutation. Clin Chem 1995, 41:1675.
17. Chillón M, Casals T, Mercier B. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995, 332:1475-1480.
18. Dayangaç D, Erdem H, Yilmaz E. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 2004, 19:1094-1100.
19. Roussey M, Le Bihannic A, Scotet V. Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutation. J Inherit Metab Dis 2007, 30:613.
20. Available: http://www.genet.sickkids.on.ca/cftr/resource/nl/ CFnewlet.49.html
21. Feldmann D, Couderc R, Audrezet MP. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat 2003, 22:340.
22. http://www.genet.sickkids.on.ca/cftr/app, Last accessed on July 20th 2009.
23. Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959, 23:545-549.
24. Fajac I, Hubert D, Guillemot D. Nasal airway ion transport is linked to the cystic fibrosis phenotype in adult patients. Thorax 2004, 59:971-976.
25. Wilschanski M, Famini H, Strauss-Liviatan N. Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 2001, 17:1208-1215.
26. Kerem E, Conway S, Elborn S. Standards of care for patients with cystic fibrosis: a European consensus. J Cyst Fibros 2005, 4:7-26.
27. Hubert D, Bienvenu T, Desmazes-Dufeu N. Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. Eur Respir J 1996, 9:2207-2214.
28. Borowitz D, Baker RD, Stallings V. Consensus report on nutrition for pediatric patients with cystic fibrosis. J Pediatr Gastroenterol Nutr 2002, 35:246-259.
29. Glantz ST. The special case of two groups: the t-test. Primer of biostatistics 1997, 65-107. New York, McGraw-Hill
30. Duguépéroux I, De Braekeleer M. The CFTR 3849 + 10kbC - > T and 2789 + 5G- > A alleles are associated with a mild CF phenotype. Eur Respir J 2005, 25:468-473.
31. Rocchetti S, Santonocito C, Concolino P. Genetic cystic fibrosis transmembrane regulator 4016insT D1152H compound heterozygosity and male infertility: an Italian case report. Clin Chem Lab Med 2007, 45:923-924.