Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.

ABSTRACT:

Background

Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR-based approaches. In recent years, the development of next-generation sequencing (NGS) has made possible the time- and cost-effective and accurate analysis of the three genes in a single step.

Methods

Here, we analyze COL4A3, COL4A4, and COL4A5 simultaneously in 29 AS patients using NGS. Candidate mutations were validated by classic Sanger sequencing and Real-time PCR.

Results

Twenty two new mutations and 10 known mutations were detected. Of those novel mutations, 18, 3, and 1 mutations were detected in COL4A5, COL4A4, a

SUBMITTER: Zhao X 

PROVIDER: S-EPMC6565573 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature