The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

ABSTRACT:

Background

Upshaw-Schulman syndrome (USS) is an autosomal recessive disease characterized by thrombotic microangiopathies caused by pathogenic variants in ADAMTS13. We aimed to (1) curate the ADAMTS13 gene pathogenic variant dataset and (2) estimate the carrier frequency and genetic prevalence of USS using Genome Aggregation Database (gnomAD) data.

Methods

Studies were comprehensively retrieved. All previously reported pathogenic ADAMTS13 variants were compiled and annotated with gnomAD allele frequencies. The pooled global and population-specific carrier frequencies and genetic prevalence of USS were calculated using the Hardy-Weinberg equation.

Results

We mined reported disease-causing variants that were present in the gnomAD v2.1.1, filtered by allele frequency. Th

SUBMITTER: Zhao T 

PROVIDER: S-EPMC8600861 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature