Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome.

ABSTRACT:

Background

Alport syndrome (AS) is a hereditary renal basement membrane disease that can lead to end-stage renal disease in young adults. It can be diagnosed by genetic analysis, being mostly caused by mutations in COL4A3, COL-4A4, and COL4A5. To date, there is no radical cure for this disease.

Objectives

The aim of this study was to avoid the transmission of AS within an affected family by selecting healthy embryos for uterine transfer. The embryos were identified by preimplantation genetic testing for monogenic disorders (PGT-M).

Methods

We used next-generation sequencing (NGS) to identify mutations in the proband and his parents. The results of NGS were confirmed by Sanger sequencing. Targeted NGS combined with targeted single-nucleotide polymo

SUBMITTER: Hu X 

PROVIDER: S-EPMC8613584 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature