Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene

Journal of Korean Medical Science

Volumn 21, Issue 3, 2006, Pages 563-566

  Koh, Won Jung ^a   Ki, Chang Seok ^a   Kim, Jong Won ^a   Kim, Jeong Ho ^b   Seong, Yong Lim ^c  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator, CFTR; Mutation

Indexed keywords

EID: 33745256041     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2006.21.3.563     Document Type: Article

References (17)

1. Welsh MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001: 5121-88.
2. Imaizumi Y. Incidence and mortality rates of cystic fibrosis in Japan, 1969-1992. Am J Med Genet 1995; 58: 161-8.
3. Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Ohtsuka Y. The estimated incidence of cystic fibrosis in Japan. J Pediatr Gastroenterol Nutr 1997; 24: 544-7.
4. Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci 2005; 20: 153-7.
5. Moon HR, Ko TS, Ko YY, Choi JH, Kim YC. Cystic fibrosis-a case presented with recurrent bronchiolitis in infancy in a Korean male infant. J Korean Med Sci 1988; 3: 157-62.
6. Park SH, Lee HJ, Kim JH, Park CH. Cystic firbosis: case report. J Korean Radiol Soc 2002; 47: 693-6.
7. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998; 132: 589-95.
8. Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M. Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Hum Mutat 1995; 6: 190-1.
9. Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England. Hum Mutat 1994; 3: 141-51.
10. Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998; 132: 255-9.
11. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004; 6: 387-91.
12. Lee JH, Choi JH, Namkung W, Hanrahan JW, Chang J, Song SY, Park SW, Kim DS, Yoon JH, Suh Y, Jang IJ, Nam JH, Kim SJ, Cho MO, Lee JE, Kim KH, Lee MG. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet 2003; 12: 2321-32.
13. Yankaskas JR, Marshall BC, Sufian B, Simon RH, Rodman D. Cystic fibrosis adult care: consensus conference report. Chest 2004; 125: 1S-39S.
14. Gilljam M, Ellis L, Corey M, Zielenski J, Durie P, Tullis DE. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest 2004; 126: 1215-24.
15. Macek M Jr, Hamosh A, Kiesewetter S, McIntosh I, Rosenstein BJ, Cutting GR. Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome. Hum Mutat 1992; 1: 501-2.
16. Macek M Jr, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 1997; 9: 136-47.
17. Jung Y, Ha H, Jung SH, Lee MG, Lee HW, Yoon J, Choi JW, Yeh BI. F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients. Exp Mol Med 2001; 33: 29-31.