Clinical expression of patients with the D1152H CFTR mutation

Journal of Cystic Fibrosis

Volumn 14, Issue 4, 2015, Pages 447-452

  Terlizzi, Vito ^a   Carnovale, Vincenzo ^a   Castaldo, Giuseppe ^a,b   Castellani, Carlo ^c   Cirilli, Natalia ^d   Colombo, Carla ^e   Corti, Fabiola ^e   Cresta, Federico ^f   D'Adda, Alice ^e   Lucarelli, Marco ^g   Lucidi, Vincenzina ^h   Macchiaroli, Annamaria ⁱ   Madarena, Elisa ^j   Padoan, Rita ^k   Quattrucci, Serena ^g   Salvatore, Donatello ^l   Zarrilli, Federica ^m   Raia, Valeria ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^c UNIVERSITY HOSPITAL OF VERONA   (Italy)

^d OSPEDALI RIUNITI   (Italy)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f G GASLINI INSTITUTE   (Italy)

^g POLICLINICO UMBERTO I   (Italy)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ Ospedale A Cardarelli   (Italy)

^j Ospedale Giovanni Paolo II   (Italy)

^k UNIVERSITY OF BRESCIA   (Italy)

^l AOR Hospital San Carlo   (Italy)

^m UNIVERSITY OF MOLISE   (Italy)

more..

Author keywords

Cystic fibrosis; D1152H; Genotype phenotype; Neonatal screening

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; AGED; ALLELE; ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS; ARTICLE; BACTERIAL COLONIZATION; BIOCHEMICAL ANALYSIS; BRONCHIECTASIS; CHILD; CYSTIC FIBROSIS; DIABETES MELLITUS; FAMILY HISTORY; FORCED EXPIRATORY VOLUME; GASTROINTESTINAL SYMPTOM; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; LUNG FUNCTION TEST; MAJOR CLINICAL STUDY; MIDDLE AGED; PANCREAS INSUFFICIENCY; PRESCHOOL CHILD; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; RETROSPECTIVE STUDY; SWEAT TEST; AGE; COMPLICATION; FEMALE; GENETICS; HOMOZYGOTE; INFANT; ITALY; MALE; MUTATION; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; AGE FACTORS; AGED; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; ITALY; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84937641488     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2014.12.012     Document Type: Article

References (31)

1. O'Sullivan B.P., Freedman S.D. Cystic fibrosis. Lancet 2009, 373:1891-1904.
2. Salvatore F., Scudiero O., Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002, 111:88-95.
3. Green D.M., McDougal K.E., Blackman S.M., Sosnay P.R., Henderson L.B., Naughton K.M., et al. Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. Respir Res 2010, 11:1-9.
4. Bonadia L.C., de Lima Marson F.A., Ribeiro J.D., Paschoal I.A., Pereira M.C., Ribeiro A.F., et al. CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease. Gene 2014, 540:183-190.
5. Kreindler J.L. Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies. Pharmacol Ther 2010, 125:219-229.
6. Koch C., Cuppens H., Rainisio M., Madessani U., Harms H., Hodson M., et al. European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol 2001, 31:1-12.
7. Castellani C., Cuppens H., Macek M., Cassiman J.J., Kerem E., Durie P., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008, 7:179-196.
8. Terlizzi V., Tosco A., Tomaiuolo R., Sepe A., Amato N., Casale A., et al. Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis. J Cyst Fibros 2014, 14:30-37.
9. Amato F., Bellia C., Cardillo G., Castaldo G., Ciaccio M., Elce A., et al. Extensive molecular analysis of patients bearing CFTR-related disorders. J Mol Diagn 2012, 14:81-89.
10. Farrell P.M., Rosenstein B.J., White T.B., Accurso F.J., Castellani C., Cutting G.R., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008, 53:S4-S14.
11. Burgel P.R., Fajac I., Hubert D., Grenet D., Stremler N., Roussey M., et al. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Clin Genet 2010, 77:355-364.
12. Highsmith W.E., Friedman K.J., Burch L.H., Spock A., Silverman L.M., Boucher R.C., et al. A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides. Clin Genet 2005, 68:88-90.
13. Feldmann D., Couderc R., Audrezet M.P., Ferec C., Bienvenu T., Desgeorges M., et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat 2003, 22:340.
14. Mussaffi H., Prais D., Mei-Zahav M., Blau H. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006, 41:250-254.
15. Peleg L., Karpati M., Bronstein S., Berkenstadt M., Frydman M., Yonath H., et al. The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis. J Med Screen 2011, 18:169-172.
16. LaRusch J., Jung J., General I.J., Lewis M.D., Park H.W., Brand R.E., et al. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genet 2014, 10:e1004376.
17. Tomaiuolo R., Spina M., Castaldo G. Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures. Clin Chem Lab Med 2003, 41:26-32.
18. Tomaiuolo R., Sangiuolo F., Bombieri C., Bonizzato A., Cardillo G., Raia V., et al. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibros 2008, 7:347-351.
19. Castaldo G., Polizzi A., Tomaiuolo R., Cazeneuve C., Girodon E., Santostasi T., et al. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in southern Italy population. Ann Hum Genet 2005, 69:15-24.
20. Borowitz D., Baker R.D., Stallings V. Consensus report on nutrition for pediatric patients with cystic fibrosis. J Pediatr Gastroenterol Nutr 2002, 35:246-259.
21. Quanjer P.H., Stanojevic S., Cole T.J., Baur X., Hall G.L., Culver B.H., et al. Multi-ethnic reference values for spirometry for the 3-95year age range: the global lung function 2012 equations. Eur Respir J 2012, 40:1324-1343.
22. Döring G., Flume P., Heijerman H., Elborn J.S., Consensus Study Group Treatment of lung infection in patients with cystic fibrosis: current and future strategies. J Cyst Fibros 2012, 11:461-479.
23. Vanderhelst E., De Wachter E., Willekens J., Piérard D., Vincken W., Malfroot A. Eradication of chronic methicillin-resistant Staphylococcus aureus infection in cystic fibrosis patients. An observational prospective cohort study of 11 patients. J Cyst Fibros 2013, 12:662-666.
24. Loser C., Mollgaard A., Folsch U.R. Faecal elastase 1: a novel, highly sensitive, and specific tubeless pancreatic function test. Gut 1996, 39:580-586.
25. Wali P.D., Loveridge-Lenza B., He Z., Horvath K. Comparison of fecal elastase-1 and pancreatic function testing in children. J Pediatr Gastroenterol Nutr 2012, 54:277-280.
26. Morinville V.D., Husain S.Z., Bai H., Barth B., Alhosh R., Durie P.R., et al. Definitions of pediatric pancreatitis and survey of present clinical practices. J Pediatr Gastroenterol Nutr 2012, 55:261-265.
27. Kelly A., Moran A. Update on cystic fibrosis-related diabetes. J Cyst Fibros 2013, 12:318-331.
28. Debray D., Kelly D., Houwen R., Strandvik B., Colombo C. Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J Cyst Fibros 2011, 10(Suppl. 2):S29-S36.
29. Bartlett J.R., Friedman K.J., Ling S.C., Pace R.G., Bell S.C., Bourke B., et al. Genetic modifiers of liver disease in cystic fibrosis. JAMA 2009, 302:1076-1083.
30. Elce A., Boccia A., Cardillo G., Giordano S., Tomaiuolo R., Paolella G., et al. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009, 55:1372-1379.
31. Colombo C., Costantini D., Russo M.C., Claut L., Porcaro L., Nobili R. Is early identification of asymptomatic infants with 'mild' CFTR genotypes clinically useful?. Acta Paediatr 2007, 96:477-479.