title: Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
abstract: Cystic fibrosis (CF), the most common lethal hereditary disorder in Caucasians, is quite rare in Southeast Asia including Japan. Here, we report three CF cases encountered in Nagasaki, Japan. Case 1; a 24-year-old man with dyspnea and cough was diagnosed as CF with a missense mutation Q98R in exon 4 and a polymorphic 125C in exon 1 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4. Case 3; a 29-year-old woman complaining of cough and sputum was diagnosed as CF with a heterozygous R347H mutation in exon 7 and a polymorphic 125C in exon 1. These mutations have been previously reported in Caucasian patients, but are considered very rare. Although the numbers of individuals with CF are very limited, the profiles of CFTR mutations in those patients are likely diverse in Japan.
authors: The Second Department of Internal Medicine, Nagasaki University School of Medicine. koizumik@nagasaki-u.ac.jp
authors: Koichi
authors: K
authors: Izumikawa
authors: Yumiko
authors: Y
authors: Tomiyama
authors: Hiroshi
authors: H
authors: Ishimoto
authors: Noriho
authors: N
authors: Sakamoto
authors: Yoshifumi
authors: Y
authors: Imamura
authors: Masafumi
authors: M
authors: Seki
authors: Toyomitsu
authors: T
authors: Sawai
authors: Hiroshi
authors: H
authors: Kakeya
authors: Yoshihiro
authors: Y
authors: Yamamoto
authors: Katsunori
authors: K
authors: Yanagihara
authors: Hiroshi
authors: H
authors: Mukae
authors: Kunihiko
authors: K
authors: Yoshimura
authors: Shigeru
authors: S
authors: Kohno
mesh_terms: D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator