Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
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.
Izumikawa
Koichi
K
The Second Department of Internal Medicine, Nagasaki University School of Medicine. koizumik@nagasaki-u.ac.jp
Tomiyama
Yumiko
Y
Ishimoto
Hiroshi
H
Sakamoto
Noriho
N
Imamura
Yoshifumi
Y
Seki
Masafumi
M
Sawai
Toyomitsu
T
Kakeya
Hiroshi
H
Yamamoto
Yoshihiro
Y
Yanagihara
Katsunori
K
Mukae
Hiroshi
H
Yoshimura
Kunihiko
K
Kohno
Shigeru
S
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator