Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.

ABSTRACT:

Background

X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation in male XLAS is relatively well established; relative to truncating mutations, nontruncating mutations exhibit milder phenotypes. However, transcript comparison between XLAS cases with splicing abnormalities that result in a premature stop codon and those with nontruncating splicing abnormalities has not been reported, mainly because transcript analysis is not routinely conducted in patients with XLAS.

Methods

We examined transcript expression for all patients with suspected splicing abnormalities who were treated at one hospital between January of 2006 and July of 2017. Additionally, we recruited 46 males from 29 fa

SUBMITTER: Horinouchi T 

PROVIDER: S-EPMC6065097 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature