Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next ‐generation sequencing technology

ConclusionsTargeted NGS panel was helpful in detecting typical ADPKD patients and even in non ‐typical PKD patients. Macromutation in HNF1B may lead to bilateral PKD. The 16 novel PKD gene mutation sites and two novel PKD2 gene mutation sites discovered in this study have some significance in genetic counseling for ADPKD patients, and increase the number of studied families and expand the mutation database of ADPKD.

Source: Molecular Genetics & Genomic Medicine - May 5, 2019 Category: Genetics & Stem Cells Authors: Tao Wang, Qinggang Li, Shunlai Shang, Guangrui Geng, Yuansheng Xie, Guangyan Cai, Xiangmei Chen Tags: ORIGINAL ARTICLE Source Type: research