Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus.

ABSTRACT:

Objectives

This study aims to analyze the relationship between complement receptor 2 (CR2) gene mutation and the clinical phenotype in Chinese familial systemic lupus erythematosus (SLE).

Patients and methods

A total of one Chinese familial SLE patients (median age: 30.25 years; range, 22 to 49 years) were included between January 2017 and December 2018. The clinical features and diagnoses of familial SLE patients were analyzed using whole-exome sequencing (WES) of genomic deoxyribonucleic acid (DNA) samples. Sanger sequencing was used to verify candidate mutations detected in the examined family.

Results

The mother and her three daughters were diagnosed with SLE. The clinical characteristics showed that the patient and her mother were diagnosed with lupus nephritis.

SUBMITTER: Tang Y 

PROVIDER: S-EPMC9985375 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature