A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.

ABSTRACT:

Background

Primary hyperoxaluria(PH)is a rare autosomal recessive genetic disease that contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been reported as subtype PH1, this subtype of PH has been related to a higher risk of renal failure at any age. Several genetic studies indicate that the variants in gene AGXT are responsible for the occurrence of PH1. However, the population heterogeneity of the variants in AGXT makes the genetic diagnosis of PH1 more challenging as it is hard to locate each specific variant. It is valuable to have a complete spectrum of AGXT variants from different population for early diagnosis and clinical treatments of PH1.

Case presentation

In this study, We performed high-throughput sequencing and genetic analysis of a

SUBMITTER: Xu CB 

PROVIDER: S-EPMC7945658 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature