ABCMdb

PMID: 16778407

Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY
Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.
J Korean Med Sci. 2006 Jun;21(3):563-6., [PubMed]

Sentences

No. Mutations Sentence Comment

15 ABCC7 p.Gln220* ABCC7 p.Gln98Arg Chest radiographs and computed tomographic (CT) scans of the chest, performed without intravenous contrast mate- Won-Jung Koh, Chang-Seok Ki*, Jong-Won Kim*, Jeong-Ho Kim� , Seong Yong Lim� Division of Pulmonary and Critical Care Medicine, Department of Medicine and Department of Laboratory Medicine*, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Laboratory Medicine � , Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul; Division of Pulmonary and Critical Care Medicine � , Department of Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea Address for correspondence Chang-Seok Ki, M.D. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Korea Tel : +82.2-3410-2710, Fax : +82.2-3410-2719 E-mail : changski@skku.edu 563 J Korean Med Sci 2006; 21: 563-6 ISSN 1011-8934 Copyright � The Korean Academy of Medical Sciences Report of a Korean Patient with Cystic Fibrosis, Carrying Q98R and Q220X Mutations in the CFTR Gene Although cystic fibrosis (CF) is one of the most frequently seen autosomal-recessive disorders in Caucasians, it is extremely rare in the Korean population. Login to comment 20 ABCC7 p.Gln220* ABCC7 p.Gln98Arg Upon mutation analysis, two different mutations (Q98R and Q220X) were identified in the cystic fibrosis transmembrane conductance regulator gene, both of which had been previously detected in CF patients, one from France and the other from England. Login to comment 34 ABCC7 p.Gln220* ABCC7 p.Gln98Arg Direct sequencing analysis of all coding exons and their flanking intronic sequences demonstrated that the patient possessed two mutations in his CFTR gene (Fig. 2): a heterozygous A to G transition in exon 4 (c.293A>G; Q98R) and a heterozygous C to T transition in exon 6a (c.658C>T; Q220X). Login to comment 35 ABCC7 p.Gln220* ABCC7 p.Gln98Arg A family study demonstrated that the patient`s father and elder brother both also possessed the Q98R mutation, whereas his mother harbored the Q220X mutation. Login to comment 37 ABCC7 p.Gln220* ABCC7 p.Gln98Arg Based on our search of the Cystic Fibrosis Mutation Database (http://www.genet.sickkids.on.ca/cftr/), Q98R and Q220X mutations have been reported in CF patients from Southern France and Southern England (8, 9). Login to comment 43 ABCC7 p.Gln220* ABCC7 p.Gln220* ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg ABCC7 p.Gln98Arg A B Q98R/- Q98R/- -/- Q98R/Q220X -/Q220X Fig. 2. Login to comment 45 ABCC7 p.Gln220* ABCC7 p.Gln98Arg A heterozygous Q98R mutation is found in the father, brother, and the proband, and another heterozygous Q220X mutation is found in the mother and the proband. Login to comment 56 ABCC7 p.Gln220* ABCC7 p.Gln98Arg In the present study, we report two additional mutations in the list of CFTR gene mutations (Q98R and Q220X), which have been identified in Koreans. Login to comment 59 ABCC7 p.Arg117His Furthermore, only two mutations (R117H and delF508) are found among 25 mutations in the screening panel for Caucasian CF patients recommended by the American College of Medical Genetics (11). Login to comment