Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
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Anguiano, 1992, Congenital bilateral absence of the vas deferens—a primarily genital form of cystic fibrosis, JAMA, 267, 1794, 10.1001/jama.1992.03480130110034
Audrézet, 2004, Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms, Hum Mutat, 23, 343, 10.1002/humu.20009
Bienvenu, 1997, Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 french patients, Ann Genet, 40, 5
Bobadilla, 2002, Cystic fibrosis: a worldwide analysis of CFTR mutations—correlation with incidence data and application to screening, Hum Mutat, 19, 575, 10.1002/humu.10041
Bombieri, 2005, Frequency of large CFTR gene rearrangements in Italian CF patients, Eur J Hum Genet, 13, 687, 10.1038/sj.ejhg.5201387
Bombieri, 2000, A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals, Hum Genet, 106, 172, 10.1007/s004390051025
Casals, 2000, Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens, Hum Reprod, 15, 1476, 10.1093/humrep/15.7.1476
Chevalier-Porst, 2005, Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene, Hum Mutat, 25, 504, 10.1002/humu.9335
Chillon, 1995, Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens, N Engl J Med, 332, 1475, 10.1056/NEJM199506013322204
Chillon, 1995, A novel donor splice site in intron 11 of the CFTR gene created by mutation 1811 + 1.6kbA- > G produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype, Am J Hum Genet, 56, 623
Claustres, 2000, Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France, Hum Mutat, 16, 143, 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J
Cohn, 1998, Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis, N Engl J Med, 339, 653, 10.1056/NEJM199809033391002
Costes, 1993, A rapid, efficient and sensitive assay for simultaneous analysis of multiple cystic fibrosis mutations, Hum Mutat, 2, 185, 10.1002/humu.1380020306
Costes, 1995, Frequent occurrence of the CFTR intron 8 (TG)n5T allele in men with congenital bilateral absence of the vas deferens, Eur J Hum Genet, 3, 285, 10.1159/000472312
Cuppens, 1998, Polyvariant mutant cystic fibrosis trensmembrane conductance regulator genes, J Clin Invest, 101, 487, 10.1172/JCI639
Dörk, 1997, Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens, Hum Genet, 100, 365, 10.1007/s004390050518
Dörk, 2000, Characterisation 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, 106, 259
Dumur, 1990, Abnormal distribution of DF508 allele in azoospermic men with congenital aplasia of the epidymis and vas deferens, Lancet, 336, 512, 10.1016/0140-6736(90)92066-Q
Estivill, 1997, Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations, Hum Mutat, 10, 135, 10.1002/(SICI)1098-1004(1997)10:2<135::AID-HUMU6>3.0.CO;2-J
Fanen, 1992, Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis transmembrane conductance regulator (CFTR) coding regions and splice site junctions, Genomics, 3, 770, 10.1016/0888-7543(92)90152-I
Ferec, 2006, 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, 14, 567, 10.1038/sj.ejhg.5201590
Girodon, 1997, CFTR gene mutations in adults with disseminated bronchiectasis, Eur J Hum Genet, 5, 149, 10.1159/000484750
Grangeia, 2004, Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens, Hum Reprod, 19, 2502, 10.1093/humrep/deh462
Groman, 2004, 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, 74, 176, 10.1086/381001
Hantash, 2006, A large deletion in the CFTR gene in CBAVD, Genet Med, 8, 93, 10.1097/01.gim.0000200945.54234.d7
Hantash, 2006, Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening, Hum Genet, 17, 1
Laufer-Cahana, 1999, Cystic fibrosis mutations in Israeli Arab patients, Hum Mutat, 14, 543, 10.1002/(SICI)1098-1004(199912)14:6<543::AID-HUMU16>3.0.CO;2-V
Le Marechal, 2001, Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling, Hum Genet, 108, 209
Lerer, 1999, A large deletion mutation in the CFTR gene (3120 + 1kbdel8.6 kb): a founder mutation in the Palestinian Arabs, Hum Mutat, 13, 337, 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU13>3.0.CO;2-C
Lissens, 1996, Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities, Hum Reprod, 11, 55, 10.1093/humrep/11.suppl_4.55
Mercier, 1995, Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR Gene in 67 Patients, Am J Hum Genet, 56, 272
Niel, 2006, A new large CFTR rearrangement illustrates the importance of searching for complex alleles, Hum Mutat, 27, 716, 10.1002/humu.9431
Niel, 2004, Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis, J Med Genet, 41, 10.1136/jmg.2004.022400
Pignatti, 1995, Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis, Hum Mol Genet, 4, 635, 10.1093/hmg/4.4.635
Rave-Harel, 1995, CFTR haplotype analysis reveals genetics heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens, Am J Hum Genet, 56, 1359
Sharer, 1998, Mutations of the cystic fibrosis gene in patients with chronic pancreatitis, N Engl J Med, 339, 645, 10.1056/NEJM199809033391001
Stuhrmann, 2000, CFTR gene mutations and male infertility, Andrologia, 32, 71, 10.1046/j.1439-0272.2000.00327.x
Welsh, 2001, Cystic fibrosis, Metabolic and Molecular Bases of Inherited Disease, 5121