Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.

ABSTRACT:

Background

Although cerebral aneurysm (CA) is a defining complication of COL4A1/2-related vasculopathy, the specific factors influencing its onset remain uncertain. This study aimed to identify and analyze these factors.

Methods

We described a family presenting with a novel variant of the COL4A1 gene complicated with CA. Concurrently, an exhaustive review of previously documented patients with COL4A1/2-related vasculopathy was conducted by sourcing data from PubMed, Web of Science, Google Scholar, and Ichushi databases. We compared the variant types and locations between patients with CA (positive group) and those without CA (negative group).

Results

This study included 53 COL4A1/2 variants from 76 patients. Except for one start codon varia

SUBMITTER: Uemura M 

PROVIDER: S-EPMC10892350 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature