ABCMdb

PMID: 19652440

Izumikawa K, Tomiyama Y, Ishimoto H, Sakamoto N, Imamura Y, Seki M, Sawai T, Kakeya H, Yamamoto Y, Yanagihara K, Mukae H, Yoshimura K, Kohno S
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
Intern Med. 2009;48(15):1327-31. Epub 2009 Aug 3., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCC7 p.Gln98Arg 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. Login to comment 3 ABCC7 p.Gln98Arg Case 2; a 13-year-old woman born of consanguineous parents was diagnosed as CF with homozygous Q98R mutations in exon 4. Login to comment 4 ABCC7 p.Arg347His 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. Login to comment 16 ABCC7 p.Arg347His ABCC7 p.His1085Arg ABCC7 p.Met152Arg The other novel or rare mutations such as R347H, D 979A, 1724delAG, H1085R, M152R and 1540del10 have The Second Department of Internal Medicine, Nagasaki University School of Medicine, Nagasaki, Department of Respiratory Medicine, National Hospital Organization Minami-Kyushu National Hospital, Kagoshima, Department of Respiratory Medicine, National Hospital Organization Ureshino Medical Center, Ureshino, Department of Laboratory Medicine, Nagasaki University School of Medicine, Nagasaki and Department of Respiratory Medicine, Respiratory Center, Toranomon Hospital, Tokyo Received for publication January 20, 2009; Accepted for publication April 14, 2009 Correspondence to Dr. Koichi Izumikawa, koizumik@nagasaki-u.ac.jp Figure1. Login to comment 37 ABCC7 p.Gln98Arg Missense mutation Q98R was detected in exon 4 and polymorphic 125C was present in exon 1 by CFTR mutation screening. Login to comment 38 ABCC7 p.Gln98Arg Further analysis revealed that Q98R was derived from his father and 125C from his mother. Login to comment 39 ABCC7 p.Gln98Arg Heterozygous Q98R was also recognized in his otherwise healthy elder sister. Login to comment 47 ABCC7 p.Gln98Arg The presence of missense mutation Q98R was detected in a homozygous fashion in exon 4 of Figure2. Login to comment 52 ABCC7 p.Gln98Arg Her father possessed heterozygous Q98R mutation (test was not performed to mother). Login to comment 60 ABCC7 p.Arg347His Heterozygous R347H mutation in exon 7 and a polymorphic 125C in exon 1 were present by CFTR mutation screening. Login to comment 66 ABCC7 p.Arg347His ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg Locus of CFTR mutationCase Age Sex CP sinusitis CBAVD PFD test (%) sweat chloride concentration (mmol/L) Mutation (variant) Exon Mutation (variant) Exon 1 24 M - + + 17.0 94.0 125C 1 Q98R 4 2 13 F + - - 67.0 54.8 Q98R 4 Q98R 4 3 29 F - + - 69.8 60.0 125C 1 R347H 7 CP, consanguineous parents; CBAVD, congenital bilateral absence of the vas deferens; PFD, pancreatic functional diagnostant. Login to comment 69 ABCC7 p.Gln98Arg SummaryofThreeCysticFibrosisCases The CFTR Q98R mutation was first reported by Romey et al (13), and the patient possessed F508del mutation on the other allele. Login to comment 71 ABCC7 p.Gln98Arg Although father and elder sister of the patient carried the same Q98R mutation heterozygously, they were phenotypically healthy. Login to comment 75 ABCC7 p.Gln98Arg In Case 2, the Q98R mutation was detected homozygously and it was likely due to the consanguineous marriage of her parents. Login to comment 78 ABCC7 p.Gln98Arg No cases with Q98R homozygous mutation in CFTR gene was reported among Japanese CF patients in the JIDRF surveillance (unpublished data). Login to comment 81 ABCC7 p.Gln98Arg The common findings observed in these two cases with Q98R were the distribution of lung lesions and the pattern of onset. Login to comment 90 ABCC7 p.Arg347His The R347H mutation which was detected in Case 3 was originally reported in 1992 in a CF patient with mild phenotype (18). Login to comment 91 ABCC7 p.Arg347His The clinical features of CF patients with R347H mutation were characterized as mild pulmonary symptoms and all men were infertile accompanied by CBAVD (7). Login to comment 92 ABCC7 p.Arg347His ABCC7 p.Arg347His Although a few cases with R347H mutations with F508del on the other allele were previously reported in Japan and Italy (7, 18), no cases with R347H/125C mutation have been reported before. Login to comment 98 ABCC7 p.Arg347His The mutations detected were Q 98R in Cases 1 and 2, and R347H in Case 3, although they were heterozygous in Cases 1 and 3. Login to comment