Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family.

ABSTRACT:

Background

Chronic kidney disease caused by X-linked Alport syndrome (XLAS) is relatively rare. However, due to the nonspecific pathologic and clinical manifestations of this disease, it is easily misdiagnosed. Genetic testing is crucial in identifying suspected cases. In addition, the results of genetic testing are an important indicator of patient prognosis. This study demonstrated a novel pathogenic COL4A5 splicing site variant in a Chinese family with XLAS.

Methods

Targeted next generation sequencing (NGS) was performed to identify the gene variant in the family members, and the gene mutation site was confirmed by Sanger sequencing. We then further analyzed the consequences of this gene mutation on the translated protein of this variant using in silico and

SUBMITTER: Chen X 

PROVIDER: S-EPMC8506736 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature