Open Access

Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease

  • Authors:
    • Kexian Dong
    • Huanhuan Miao
    • Xueyuan Jia
    • Jie Wu
    • Han Wu
    • Jiawei Sun
    • Wei Ji
    • Hui Su
    • Lidan Xu
    • Xuelong Zhang
    • Siqi Zhu
    • Guohua Ji
    • Rongwei Guan
    • Hao Wang
    • Jing Bai
    • Jingcui Yu
    • Wenjing Sun
    • Xianli Zhou
    • Songbin Fu
  • View Affiliations

  • Published online on: January 31, 2019     https://doi.org/10.3892/mmr.2019.9921
  • Pages: 2671-2679
  • Copyright: © Dong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Polycystic kidney disease (PKD) is a life‑threatening inherited disease with a morbidity of 1:500‑1,000 worldwide. Numerous progressively enlarging cysts are observed in the bilateral kidneys of patients with PKD, inducing structural damage and loss of kidney function. The present study analyzed one family with PKD. Whole exome sequencing of the proband was performed to detect the pathogenic gene present in the family. Candidate gene segments for lineal consanguinity in the family were amplified by nest polymerase chain reaction, followed by Sanger sequencing. One novel duplication variant (NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX) and one missense mutation (c.G9022A:p.V3008M) were detected in PKD1. Additionally, the pathogenic substitutions in PKD1 published from the dataset were analyzed. Following analysis and confirmation, the duplication variant NM_001009944.2:c.9359dupA:p.Y3120_E3121delinsX in PKD1, within the polycystin‑1, lipoxygenase, α‑toxin domain, was considered to be the pathogenic factor in the examined family with autosomal dominant PKD. Additionally, based on the analysis of 4,805 pathogenic substitutions in PKD1 within various regions, the presence of the missense mutation in the N‑terminal domain of polycystin‑1 may present high pathogenicity in ADPKD.
View Figures
View References

Related Articles

Journal Cover

April-2019
Volume 19 Issue 4

Print ISSN: 1791-2997
Online ISSN:1791-3004

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Dong K, Miao H, Jia X, Wu J, Wu H, Sun J, Ji W, Su H, Xu L, Zhang X, Zhang X, et al: Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. Mol Med Rep 19: 2671-2679, 2019
APA
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J. ... Fu, S. (2019). Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease. Molecular Medicine Reports, 19, 2671-2679. https://doi.org/10.3892/mmr.2019.9921
MLA
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J., Ji, W., Su, H., Xu, L., Zhang, X., Zhu, S., Ji, G., Guan, R., Wang, H., Bai, J., Yu, J., Sun, W., Zhou, X., Fu, S."Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease". Molecular Medicine Reports 19.4 (2019): 2671-2679.
Chicago
Dong, K., Miao, H., Jia, X., Wu, J., Wu, H., Sun, J., Ji, W., Su, H., Xu, L., Zhang, X., Zhu, S., Ji, G., Guan, R., Wang, H., Bai, J., Yu, J., Sun, W., Zhou, X., Fu, S."Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease". Molecular Medicine Reports 19, no. 4 (2019): 2671-2679. https://doi.org/10.3892/mmr.2019.9921