Molecular and clinical features associated with CFTR gene rearrangements in Italian population: Identification of a new duplication and recurrent deletions

Clinical Genetics

Volumn 73, Issue 4, 2008, Pages 346-352

  Paracchini, V ^a   Seia, M ^a   Coviello, D ^a   Porcaro, L ^a   Costantino, L ^a   Capasso, P ^a   Degiorgio, D ^a   Padoan, R ^b   Corbetta, C ^c   Claut, L ^a   Costantini, D ^a   Colombo, C ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b Department of Paediatrics   (Italy)

^c ICP   (Italy)

Author keywords

CFTR; Cystic fibrosis; Gene rearrangements; MLPA

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CYSTIC FIBROSIS; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GENOME SIZE; HUMAN; INFANT; ITALY; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATION RATE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN ANALYSIS;

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; INFANT; INFANT, NEWBORN; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 40749100707     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00957.x     Document Type: Article

References (24)

1. Padoan R, Pardo F, Giglio L, Bossi A. Assemblea dei Direttori dei Centri. Regional differences in the incidence of cystic fibrosis in Italy. Ital J Pediatr 2001: 27: 876-886.
2. Knowles MR, Durie PR. What is cystic fibrosis? N Engl J Med 2002: 347: 439-442.
3. Kerem B, Rommens JM, Buchanan JA et al. Identification of the cystic fibrosis gene: Genetic analysis. Science 1989: 245: 1073-1080.
4. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: A worldwide analysis of CFTR mutations -correlation with incidence data and application to screening. Hum Mutat 2002: 19: 575-606.
5. 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.
6. Gatta V, Scarciolla O, Gaspari AR et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005: 117: 92-98.
7. Ferec C, Casals T, Chuzhanova N et al. Gross genomic rearrangements involving deletions in the CFTR gene: Characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet 2006: 14: 567-576.
8. Lerer I, Laufer-Cahana A, Rivlin JR, Augarten A, Abeliovich D. A large deletion mutation in the CFTR gene (3120 + 1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs. Mutation in brief no. 231 online. Hum Mutat 1999: 13: 337.
9. Costes B, Girodon E, Vidaud D et al. Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600 + 15kbdel5.3kb (or CFTRdele19). Clin Chem 2000: 46: 1417-1420.
10. Dork T, Macek M Jr, Mekus F et al. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 2000: 106: 259-268.
11. Feuillet-Fieux MN, Ferrec M, Gigarel N et al. Novel CFTR mutations in black cystic fibrosis patients. Clin Genet 2004: 65: 284-287.
12. Faa V, Bettoli PP, Demurtas M et al. A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: Implications for population screening. J Mol Diagn 2006: 8: 499-503.
13. Hantash FM, Redman JB, Starn K et al. Novel and recurrent rearrangements in the CFTR gene: Clinical and laboratory implications for cystic fibrosis screening. Hum Genet 2006: 119: 126-136.
14. Markova D, Zou Y, Ringpfeil F et al. Genetic heterogeneity of cutis laxa: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet 2003: 72: 998-1004.
15. Chen JM, Cutler C, Jacques C et al. A combined analysis of the cystic fibrosis transmembrane conductance regulator: Implications for structure and disease models. Mol Biol Evol 2001: 18: 1771-1788.
16. Chevalier-Porst F, Souche G, Bozon D. Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene. Hum Mutat 2005: 25: 504.
17. Niel F, Martin J, Dastot-Le Moal F et al. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004: 41: e118.
18. Dugueperoux 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.
19. Padoan R, Giunta A, Marzano MT et al. First report of three cystic fibrosis patients homozygous for the 1717-1G→A mutation. J Med Genet 1996: 33: 1052-1054.
20. Sermet-Gaudelus I, Vallee B, Urbin I et al. Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation. Pediatr Res 2002: 52: 628-635.
21. Decaestecker K, Decaestecker E, Castellani C, Jaspers M, Cuppens H, De Boeck K. Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients. Eur Respir J 2004: 23: 679-684.
22. Kristidis P, Bozon D, Corey M et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992: 50: 1178-1184.
23. Ahmed N, Corey M, Forstner G et al. Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas. Gut 2003: 52: 1159-1164.
24. Colombo C, Battezzati PM, Crosignani A et al. Liver disease in cystic fibrosis: A prospective study on incidence, risk factors, and outcome. Hepatology 2002: 36: 1374-1382.