Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasian ADPKD pat...

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Bibliographic Details
Published in:Human mutation 2002-06, Vol.19 (6), p.622-628
Main Authors: Inoue, Sumiko, Inoue, Kayoko, Utsunomiya, Maki, Nozaki, Jun‐Ichi, Yamada, Yuichiro, Iwasa, Toshio, Mori, Eitaro, Yoshinaga, Takeo, Koizumi, Akio
Format: Article
Language:English
Subjects:
Adolescent
ADPKD
Adult
autosomal dominant polycystic kidney disease
Calcium Channels - genetics
Calcium-Binding Proteins - genetics
DNA Mutational Analysis - methods
end stage renal disease
Female
homologous gene
Humans
Japan - epidemiology
Japanese
Male
Membrane Proteins - genetics
Middle Aged
mutations
Pedigree
Phenotype
PKD1
PKD2
Polycystic Kidney, Autosomal Dominant - genetics
polycystin
polypyrimidine tract
Proteins - genetics
TRPP Cation Channels
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Summary:Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic renal disorder (incidence, 1:1,000). The mutation of PKD1 is thought to account for 85% of ADPKD. Although a considerable number of studies on PKD1 mutation have been published recently, most of them concern Caucasian ADPKD patients. In the present study, we examined PKD1 mutations in Japanese ADPKD patients. Long‐range polymerase chain reaction (LR‐PCR) with PKD1‐specific primers followed by nested PCR was used to analyze the duplicated region of PKD1. Six novel chain‐terminating mutations were detected: three nonsense mutations (Q2014X transition in exon 15, Q2969X in exon 24, and E2810X in exon 23), two deletions (2132del29 in exon10 and 7024delAC in exon 15), and one splicing mutation (IVS21‐2delAG). There was also one nonconservative missense mutation (T2083I). Two other potentially pathogenic missense mutations (G2814R and L2816P) were on the downstream site of one nonsense mutation. These three mutations and a following polymorphism (8662C>T) were probably the result of gene conversion from one of the homologous genes to PKD1. Six other polymorphisms were found. Most PKD1 mutations in Japanese ADPKD patients were novel and definitely pathogenic. One pedigree did not link to either PKD1 or PKD2. Hum Mutat 19:622–628, 2002. © 2002 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.10080