Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene

Journal of Cystic Fibrosis

Volumn 12, Issue 3, 2013, Pages 290-294

  Tang, Sha ^a   Moonnumakal, Siby P ^a   Stevens, Blair ^a   Douglas, Ganka ^a   Mason, Sally ^a   Schmitt, Eric S ^a   Eng, Christine M ^a   Katz, Marcia ^a   Fang, Ping ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Carrier screening; CFTR; MLPA; Rearrangement

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CONTROLLED STUDY; EXON; EXON 17A; EXON 17B; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANT; INVERTED REPEAT; MALE; MOLECULAR CLONING; MOLECULAR DIAGNOSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; FEMALE; HUMANS; INFANT; MALE; SEQUENCE DELETION; YOUNG ADULT;

EID: 84876974156     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2012.08.017     Document Type: Article

References (11)

1. Svensson A.M., Chou L.S., Miller C.E., Robles J.A., Swensen J.J., Voelkerding K.V., et al. 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. Genet Test Mol Biomarkers 2010, 14(2):171-174.
2. Hantash F.M., Redman J.B., Starn K., Anderson B., Buller A., McGinniss M.J., et al. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. Hum Genet 2006, 119(1-2):126-136.
3. Audrezet M.P., Chen J.M., Raguénès O., Chuzhanova N., Giteau K., Le Maréchal C., et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004, 23(4):343-357.
4. Bombieri C., Bonizzato A., Castellani C., Assael B.M., Pignatti P.F., et al. Frequency of large CFTR gene rearrangements in Italian CF patients. Eur J Hum Genet 2005, 13(5):687-689.
5. Kieleczawa J. Simple modifications of the standard DNA sequencing protocol allow for sequencing through siRNA hairpins and other repeats. J Biomol Tech 2005, 16(3):220-223.
6. Ferec C., Casals T., Chuzhanova N., Macek M., Bienvenu T., Holubova A., 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(5):567-576.
7. Magnani C., Cremonesi L., Giunta A., Magnaghi P., Taramelli R., Ferrari M., et al. Short direct repeats at the breakpoints of a novel large deletion in the CFTR gene suggest a likely slipped mispairing mechanism. Hum Genet 1996, 98(1):102-108.
8. Niel F., Martin J., Dastot-Le Moal F., Costes B., Boissier B., Delattre V., et al. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004, 41(11):e118.
9. Lerer I., Laufer-Cahana A., Rivlin J.R., Augarten A., Abeliovich D., et al. 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(4):337.
10. Narzi L., Piergentili R., Ferraguti G., Grandoni F., Quattrucci S., Strom R., et al. A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene. Anal Biochem 2006, 353(2):226-235.
11. Ferraguti G., Pierandrei S., Bruno S.M., Ceci F., Strom R., Lucarelli M., et al. A template for mutational data analysis of the CFTR gene. Clin Chem Lab Med 2011, 49(9):1447-1451.