title: Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
abstract: BACKGROUND
  Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder. It is caused by mutations in the PKD1 and PKD2 genes, and manifests as progressive cyst growth and renal enlargement, resulting in renal failure. Although there have been a few studies on the frequency and spectrum of mutations in PKD1 and PKD2 in Korean patients with ADPKD, only exons 36-46, excluding the duplicated region, were analyzed, which makes it difficult to determine accurate mutation frequencies and mutation spectra.
  
  
  METHODS
  We performed sequence analysis of 20 consecutive unrelated ADPKD patients using long-range polymerase chain reaction (PCR) to avoid pseudogene amplification, followed by exon-specific PCR and sequencing of the all exons of these two genes. Multiplex ligation-dependent probe amplification was performed in patients in whom pathogenic mutations in PKD1 or PKD2 were not identified by LR-PCR and direct sequencing to detect large genomic rearrangements.
  
  
  RESULTS
  All patients met the diagnostic criteria of ADPKD, and pathogenic mutations were found in 18 patients (90.0%), comprising 15 mutations in PKD1 and three in PKD2. Among 10 novel mutations, eight mutations were found in the PKD1 gene while two mutations were found in the PKD2 gene. Eight of 14 PKD1 mutations (57.1%) were located in the duplicated region.
  
  
  CONCLUSIONS
  This study expands the spectra of mutations in the PKD1 and PKD2 genes and shows that the mutation frequencies of these genes in Korean ADPKD patients are similar to those reported in other ethnicities. Sequence analysis, including analysis of the duplicated region, is essential for molecular diagnosis of ADPKD.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, (135-710) 81 Irwon-Ro Gangnam-gu, Seoul, South Korea. rihwa.choi@samsung.com.
authors.forename: Rihwa
authors.initials: R
authors.lastname: Choi
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, (110-744) 28 Yeongeon-dong, Jongno-gu, Seoul, South Korea. haynepark798@gmail.com.
authors.forename: Hayne Cho
authors.initials: HC
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, (135-710) 81 Irwon-Ro Gangnam-gu, Seoul, South Korea. kama.kyunghoon@gmail.com.
authors.forename: Kyunghoon
authors.initials: K
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, (135-710) 81 Irwon-Ro Gangnam-gu, Seoul, South Korea. mk01.lee@samsung.com.
authors.forename: Myoung-Gun
authors.initials: MG
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, (135-710) 81 Irwon-Ro Gangnam-gu, Seoul, South Korea. kimjw@skku.edu.
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, (135-710) 81 Irwon-Ro Gangnam-gu, Seoul, South Korea. changski@skku.edu.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Internal Medicine, Eulji General Hospital, (139-872), 1306 Dunsan 2(i)-dong, Seo-gu, Daejeon, Seoul, South Korea. ondahl@eulji.ac.kr.
authors.forename: Young-Hwan
authors.initials: YH
authors.lastname: Hwang
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, (110-744) 28 Yeongeon-dong, Jongno-gu, Seoul, South Korea. curie@snu.ac.kr.
authors.forename: Curie
authors.initials: C
authors.lastname: Ahn
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000208:ethnology / Q000235:genetics*; D056910:Republic of Korea; D050396:TRPP Cation Channels / Q000235:genetics*
chemical_list: D050396:TRPP Cation Channels