Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.

ABSTRACT:

Background

Biallelic HTRA1 pathogenic variants are associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent studies have indicated that heterozygous HTRA1 variants are related to autosomal dominant hereditary cerebral small vessel disease (CSVD). However, few studies have assessed heterozygous HTRA1 carriers or the genotype-phenotype correlation.

Methods

The clinical data of two unrelated Chinese Han families with CSVD were collected. Panel sequencing was used to search for pathogenic genes, Sanger sequencing was used for verification, three-dimensional protein models were constructed, and pathogenicity was analyzed. Published HTRA1-related phenotypes included in PubMed up to September 2021 were extensively

SUBMITTER: Zhou H 

PROVIDER: S-EPMC9544214 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature