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The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis

 Y.J. Lee  ;  M.G. Lee  ;  L.A. Lim  ;  S.B. Jang  ;  J.Y. Chung 
 Journal of Korean Medical Science, Vol.25(1) : 166-171, 2010 
Journal Title
 Journal of Korean Medical Science 
Issue Date
Cystic fibrosis (CF) is an autosomal recessive disorder usually found in populations of white Caucasian descent. CF is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. A 5-yr-old Korean girl was admitted complaining of coughing and greenish sputum. Chest radiographs and computed tomographic (CT) scan revealed diffuse bronchiectasis in both lungs. The patient had chronic diarrhea and poor weight gain, and the abdominal pancreaticobiliary CT scan revealed atrophy of the pancreas. Finally, CF was confirmed by the repeated analysis of the quantitative pilocarpine iontophoresis test. The chloride concentration of sweat samples taken from both forearms of the pateint was an average of 88.7 mM/L (normal value <40 mM/L). After a comprehensive search for mutations in the CFTR gene, the patient was found to carry the non-synonymous L441P mutation in one allele. Molecular physiologic analysis of the L441P mutation of CFTR revealed that the L441P mutation completely abolished the CFTR Cl(-) channel activity by disrupting proper protein folding and membrane trafficking of CFTR protein. These results confirmed the pathogenicity of the L441P mutation of CFTR circulating in the Korean population. The possibility of CF should be suspected in patients with chronic bronchiectasis, although the frequency of CF is relatively rare in East Asia.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
김경환(Kim, Kyung Hwan)
김소원(Kim, So Won)
김정호(Kim, Jeong Ho) ORCID logo https://orcid.org/0000-0003-2479-0548
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
이지현(Lee, Ji Hyun)
지헌영(Gee, Heon Yung) ORCID logo https://orcid.org/0000-0002-8741-6177
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