Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis

K Seki; W Abo; Y Yamamoto; A Matsuura

doi:10.1620/tjem.187.323

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis

Tohoku J Exp Med. 1999 Apr;187(4):323-8. doi: 10.1620/tjem.187.323.

Authors

K Seki¹, W Abo, Y Yamamoto, A Matsuura

Affiliation

¹ Department of Pediatrics, Aomori Central Hospital, Japan.

PMID: 10503604
DOI: 10.1620/tjem.187.323

Abstract

Cystic fibrosis (CF) is an inheritable disorder characterized by defective epithelial chloride transport and progressive lung disease, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The subject of this study was an 8-year old Japanese boy, who developed typical CF symptoms including meconium ileus, pancreatic insufficiency, an elevated sweat chloride concentration and pulmonary disease. Analysis of the CFTR gene of this patient revealed compound heterozygous mutations in exon 11 (1742 delAC) and intron 9 (1525-18 GtoA) of the CFTR gene.

Publication types

Case Reports

MeSH terms

Child
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Humans
Japan
Male
Mutation*
Pedigree

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator