A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

被引:5
作者
Wang, Zhendi [1 ]
Wang, Yang [2 ]
Xiong, Jing [3 ]
机构
[1] Huazhong Univ Sci & Technol, Tongji Med Coll, Union Hosp, Dept Urol, Wuhan 430022, Peoples R China
[2] Huazhong Univ Sci & Technol, Tongji Med Coll, Union Hosp, Dept Emergency, Wuhan 430022, Peoples R China
[3] Huazhong Univ Sci & Technol, Tongji Med Coll, Union Hosp, Dept Nephrol, Wuhan 430022, Peoples R China
基金
中国国家自然科学基金;
关键词
Autosomal polycystic kidney disease; PKD gene; Frame-shift mutation; Gene screening; RENAL-DISEASE; GENE; ADPKD; PATHOGENESIS;
D O I
10.1159/000355772
中图分类号
Q4 [生理学];
学科分类号
071003 ;
摘要
Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR) PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq). Results: A unique 28 bp deletion (c.12605_12632del28) in exon 46 of the PKD1 gene was identified in two affected family members by LR PCR method, but not in any unaffected relatives or unrelated controls. Higher accuracy and less missing detection presented in LR PCR method compared with targeted DNA-HiSeq. This mutation c.12605_12632del28 (p.Arg4202ProextX146) resulted in a delayed termination of amino acid code, and was highly speculated pathogenic in this ADPKD family. Moreover, this newly identified frame-shift change was compared to the PKD gene database, but no similar mutation was yet reported. Conclusion: A novel frame-shift mutation, c. 12605_12632del28, in the PKD1 gene was found in a Chinese ADPKD family. All evidence available suggested that it might be the mutation responsible for the disease in that family. Copyright (C) 2014 S. Karger AG, Basel
引用
收藏
页码:1 / 8
页数:8
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