Clinical features and novel pathogenic variants of patients with Behcet's disease like trisomy 8.

ABSTRACT:

Purpose

Chromosomal abnormalities, such as Trisomy 8 (T8), and genetic mutations may contribute to the unique clinical phenotype of Behçet's Disease (BD). This study aims to characterize the clinical and genetic features of patients presenting with BD-like symptoms associated with T8 (T8-BD).

Methods

We analyzed a cohort of 8 patients with T8-BD and associated genetic variants, including 1 newly identified case from our center and 7 previously reported in the literature. Genetic sequencing and karyotyping analyses were conducted, with Sanger sequencing used to confirm variants. We assessed clinical phenotypes, genetic backgrounds, treatments, and clinical outcomes.

Results

This study comprised predominantly female (87.5%) and East Asian (87.5%) patients, spanning pedi

SUBMITTER: Ding X 

PROVIDER: S-EPMC12228353 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature