CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

Annals of Human Genetics

Volumn 74, Issue 5, 2010, Pages 463-469

  Ramos, María D ^a   Masvidal, Laia ^a   Giménez, Javier ^a   Bieth, Eric ^b   Seia, Manuela ^c   Georges, Marie des ^d   Armengol, Lluís ^e   Casals, Teresa ^a  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b CHU PURPAN   (France)

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

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e Quantitative Genomic Medicine Laboratories (qGenomics)   (Spain)

Author keywords

CFTR; CFTR duplication; Cystic fibrosis; Genomic rearrangements; Mediterranean origin

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DNA MICROARRAY; FRANCE; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; HAPLOTYPE; HUMAN; HUMAN CELL; ITALY; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA ANALYSIS; SPAIN; ETHNOLOGY; GENE DELETION; GENE DUPLICATION; GENETICS; MOLECULAR GENETICS; MUTATION; POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; FRANCE; GENE DELETION; GENE DUPLICATION; HUMANS; ITALY; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; SPAIN;

EID: 77955647883     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2010.00591.x     Document Type: Article

References (18)

1. Alonso M J, Heine-Suner D, Calvo M, Rosell J, Gimenez J, Ramos M D, Telleria J J, Palacio A, Estivill X, Casals T. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Gene 2007, 71:194-201.
2. Bombieri C, Bonizzato A, Castellani C, Assael B M, Pignatti P F. Frequency of large CFTR gene rearrangements in Italian CF patients. Eur J Hum Genet 2005, 13:687-689.
3. Castellani C, Cuppens H, Macek M, Cassiman J J, Kerem E, Durie P, Tullis E, Assael B M, Bombieri C, Brown A, Casals T, Claustres M, Cutting G R, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti P F, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn J S. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibro 2008, 7:179-196.
4. 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.
5. http://www.genet.sickkids.on.ca/cftr/, Cystic Fibrosis Mutation Database
6. del Gaudio D, Yang Y, Boggs B A, Schmitt E S, Lee J A, Sahoo T, Pham H T, Wiszniewska J, Chinault A C, Beaudet A L, Eng C M. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008, 29:1100-1107.
7. Derwinska K, Smyk M, Cooper M L, Bader P, Cheung S W, Stankiewicz P. PTCH1 duplication in a family with microcephaly and mild developmental delay. Eur J Hum Genet 2009, 17:267-271.
8. des Georges M, Guittard C, Templin C, Altieri J P, de Carvalho C, Ramsay M, Claustres M. WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient. J Mol Diagn 2008, 10:544-548.
9. Dork T, Macek M, Mekus F, Tummler B, Tzountzouris J, Casals T, Krebsova A, Koudova M, Sakmaryova I, Macek M, Vavrova V, Zemkova D, Ginter E, Petrova N V, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zekanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz H H, Neumann T, Jakubiczka S. 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.
10. Ferec C, Casals T, Chuzhanova N, Macek M, Bienvenu T, Holubova A, King C, McDevitt T, Castellani C, Farrell P M, Sheridan M, Pantaleo S J, Loumi O, Messaoud T, Cuppens H, Torricelli F, Cutting G R, Williamson R, Ramos M J, Pignatti P F, Raguenes O, Cooper D N, Audrezet M P, Chen J M. 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.
11. Kerem B, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, Buchwald M, Tsui L C. Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245:1073-1080.
12. Lerer I, Laufer-Cahana A, Rivlin J R, 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.
13. Morral N, Nunes V, Casals T, Cobos N, Asensio O, Dapena J, Estivill X. Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum Mol Genet 1993, 2:677-681.
14. Niel F, Martin J, Dastot-Le Moal F, Costes B, Boissier B, Delattre V, Goossens M, Girodon E. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Gene 2004, 41:e118.
15. Paracchini V, Seia M, Coviello D, Porcaro L, Costantino L, Capasso P, Degiorgio D, Padoan R, Corbetta C, Claut L, Costantini D, Colombo C. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions. Clin Genet 2008, 73:346-352.
16. Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong L J. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn 2008, 10:368-375.
17. Welsh M J, Ramsey B W, Accurso F, Cutting G R. Cystic Fibrosis. The metabolic and molecular bases of inherited disease 2001, vol III:5121-5188. Scriver C R, Beaudet A L, Sly W S, Valle D. in, eds, New York, pp
18. Zhang F, Gu W, Hurles M E, Lupski J R. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009, 10:451-481.