Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants.

ABSTRACT:

Introduction

Genetic diagnosis of Alport syndrome (AS), which results from pathogenic variants in COL4A3, COL4A4, or COL4A5 genes, is hindered by large numbers of unclassified variants detected using next-generation sequencing (NGS). We examined the impact on splicing of variants of uncertain significance in COL4A3 to COL4A5.

Methods

Nine unrelated patients with clinical diagnosis or suspicion of AS were enrolled according to the criteria. Their clinical and genetic data were collected. Blood and urine samples were obtained from the patients and their family members. Sanger sequencing was used to confirm the 9 COL4A3 to COL4A5 unclassified variants identified by NGS. COL4A3 to COL4A5 mRNAs from urine were analyze

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC10334324 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature