Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.

ABSTRACT:

Background

Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3-5 genes. Recently, comprehensive genetic analysis has become the first-line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehensive screening have been published.

Methods

In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next-generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 (n = 294, Sanger group).

Results

In the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes, NPHS1

SUBMITTER: Yamamura T 

PROVIDER: S-EPMC6732293 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature