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- Title
Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
- Authors
Rihwa Choi; Hayne Cho Park; Kyunghoon Lee; Myoung-Gun Lee; Jong-Won Kim; Chang-Seok Ki; Young-Hwan Hwang; Curie Ahn
- 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 longrange polymerase chain reaction (PCR) to avoid pseudogene amplification, followed by exon-specific PCR and sequencing of the all exons of these two genes. Multiplex ligationdependent 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.
- Subjects
GENETIC mutation; POLYCYSTIC kidney disease; POLYMERASE chain reaction; GENE amplification; GENETICS; PATIENTS
- Publication
BMC Medical Genetics, 2014, Vol 15, Issue 1, p1
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/s12881-014-0129-y