Open AccessDisease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease
Author(s) -
Dong Kexian,
Liu Xiaogang,
Jia Xueyuan,
Miao Huanhuan,
Ji Wei,
Wu Jie,
Huang Yun,
Xu Lidan,
Zhang Xuelong,
Su Hui,
Ji Guohua,
Liu Peng,
Guan Rongwei,
Bai Jing,
Fu Songbin,
Zhou Xianli,
Sun Wenjing
Publication year - 2020
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1467
Subject(s) - pkd1 , sanger sequencing , proband , polycystic kidney disease , autosomal dominant polycystic kidney disease , genetics , pedigree chart , exome sequencing , biology , disease , kidney disease , whole genome sequencing , medicine , kidney , mutation , gene , genome , endocrinology
Background Polycystic kidney disease (PKD) is an inherited disease that is life‐threatening. Multiple cysts are present in the bilateral kidneys of PKD patients. The progressively enlarged cysts cause structural damage and loss of kidney function. Methods This study examined and analyzed 12 families with polycystic kidney disease. Whole exome sequencing (WES) or whole genome sequencing (WGS) of the probands was performed to detect the pathogenic genes. The candidate gene segments for lineal consanguinity in the family were amplified by the nest PCR followed by Sanger sequencing. The variants were assessed by pathogenic and conservational property prediction analysis and interpreted according to the American College of Medical Genetics and Genomics. Results Nine of the 12 pedigrees were identified the disease causing variants. Among them, four novel variants in PKD1 , c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) were detected. After assessment, the four novel variants were considered to be pathogenic variants and cause autosomal dominant polycystic kidney disease in family. The detected variants were interpreted. Conclusion The four novel variants in PKD1 , c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) are pathogenic variants and cause autosomal dominant polycystic kidney disease in family.