Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

ABSTRACT:

Objective

Systemic lupus erythematosus (SLE) is an autoimmune disease in which rare and common gene variants contribute to pathogenesis. Severe sporadic disease in children is often explained by "de novo" variants that can be uncovered by trio sequencing.

Methods

Whole-exome sequencing was performed in 50 Chinese trios with childhood-onset SLE (cSLE). Rare coding variants in SLE-associated genes and all de novo variants were investigated. Gene pathway and expression analysis and interferon-β (IFNβ) luciferase assays were used to predict contribution to disease.

Results

Each proband carried at least one rare variant in an SLE-associated gene, with a median of six per child. At least two probands had monogenic disease, and one-third of probands carried novel or rare var

SUBMITTER: Ma J 

PROVIDER: S-EPMC7617808 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature