Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus
1Department of Nephrology, Three Gorges Hospital, School of Medicine, Chongqing University, Chongqing, China
2Department of Blood Transfusion, Three Gorges Hospital, School of Medicine, Chongqing University, Chongqing, China
Keywords: Complement receptor 2, mutation, sequencing, systemic lupus erythematosus.
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. The eldest daughter had decreased renal function and lower serum albumin levels. Immunological index analysis showed that all four patients were positive for anti-SSA and antinuclear antibody (ANA), but that only the second daughter was positive for anti-double-stranded DNA (dsDNA). Complement 3 (C3) was significantly decreased in all patients, while evaluation of the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) showed that the second and third daughters had mild active SLE. The mother and eldest daughter were treated with prednisolone combined with cyclophosphamide, while the other two daughters were treated with prednisolone alone. The WES and Sanger sequencing analyses revealed an unreported missense T>C mutation c.2804 in the 15th exon of the CR gene in all four patients.
Conclusion: We identified a novel c.2804 (exon 15) T>C mutation in the CR gene of Chinese familial SLE. This mutation was previously reported, suggesting that the CR gene c.2804 (exon 15) T>C mutation is the probable cause of SLE in this family.
Citation: Tang Y, Luo Y. Identification of a novel mutation in complement receptor 2 in Chinese familial systemic lupus erythematosus. Arch Rheumatol 2022;37(4):566-573.
The study protocol was approved by the Institute of Three Gorges Hospital Ethics Committee (no. 2017-002-01). The study was conducted in accordance with the principles of the Declaration of Helsinki.
A written informed consent was obtained from all patients and/or their family members.
Data Sharing Statement:
The data that support the findings of this study are available from the corresponding author upon reasonable request.
Collected the data and drafted the paper: Y.W.T.; Conceived the idea and revised the paper: Y.L.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.
We would like to thank the participants involved in the study.