Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 2, 2010, Pages 171-174

  Svensson, Annika M ^a,b   Chou, Lan Szu ^b   Miller, Christine E ^c   Robles, Jorge A ^c   Swensen, Jeffrey J ^a,c   Voelkerding, Karl V ^a,b   Mao, Rong ^a,b   Lyon, Elaine ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c TARUP Laboratories   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CFTR GENE; CLINICAL ARTICLE; EXON; GENE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; IONTOPHORESIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POINT MUTATION;

CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; EXONS; GENE REARRANGEMENT; HUMANS; INTRONS; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SWEAT;

EID: 77951002925     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0099     Document Type: Article

References (19)

1. Audrezet MP, Chen JM, Raguenes O, et al. (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23: 343-357.
2. Bombieri C, Bonizzato A, Castellani C, et al. (2005) Frequency of large CFTR gene rearrangements in Italian CF patients. Eur J Hum Genet 13:687-689. (Pubitemid 40691411)
3. Chevalier-Porst F, Souche G, Bozon D (2005) Identification and characterization of three large deletions and a deletion= polymorphism in the CFTR gene. Hum Mutat 25:504.
4. Cystic Fibrosis Mutation Database (2009) Available at www .sickkids.on.ca=cftr=app, accessed on 04=22=2009.
5. Dörk T, Macek M Jr., Mekus F, et al. (2000) Characterization of a novel 21-kb deletion, CFTRdele2,3(21kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 106:259-268. (Pubitemid 30201272)
6. Faà V, Bettoli PP, Demurtas M, et al. (2006) 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 8:499-503. (Pubitemid 44377933)
7. Férec C, Casals, T, Chuzhanova N, et al. (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 underlying mechanisms. Eur J Hum Genet 22:1-10.
8. Grody WW, Cutting GR, Klinger KW, et al. (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149-154.
9. Hantash FM, Redman JB, Starn K, et al. (2006) Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet 119:126-136. (Pubitemid 43300204)
10. Hehr U, Doïrr S, Hagemann M, et al. (2000) Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7. Am J Med Genet 91:237-239. (Pubitemid 30165432)
11. Lerer I, Laufer-Cahana A, Rivlin JR, et al. (1999) A large deletion mutation in the CFTR gene (3120+1kbdel8. 6kb) is a founder mutation in the Palestinian Arabs. Hum Mutat 13:337
12. Morral N, Nunes V, Casals T, et al. (1993) Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion. Hum Mol Genet 2:677-681. (Pubitemid 23197509)
13. Reboul MP, Tandonnet O, Biteau N, et al. (2006) Mosaic maternal uniparental isodisomy for chromosome 7q21-qter. Clin Genet 70:207-213. (Pubitemid 44219508)
14. Schneider M, Hirt C, Casaulta C, et al. (2007) Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. Clin Genet 72:30-38. (Pubitemid 47010145)
15. Schouten JP, McElgunn CJ, Waaijer R, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res 30:e57.
16. Strom CM, Huang D, Chen C, et al. (2003) Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 5:9-14. (Pubitemid 41184271)
17. Taulan M, Girardet A, Guittard C, et al. (2007) Large genomic rearrangements in the CFTR gene contribute to CBAVD. BMC Med Genet 8:22. (Pubitemid 46850937)
18. Vaughn CP, Lyon E, Samowitz WS (2008) Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction. J Mol Diagn 10:355-360. (Pubitemid 352019122)
19. Watson MS, Cutting GR, Desnick RJ, et al. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 6:387-391.