NCF1 gene mutation-induced systemic lupus erythematosus in twin sisters of a family
10.3760/cma.j.cn101070-20241008-00647
- VernacularTitle:NCF1基因突变致双胞胎姐妹患系统性红斑狼疮的家系报道
- Author:
Li YU
1
;
Xiaoxiao XU
1
;
Yiqi XU
1
;
Xiaoting LIU
1
;
Fuyu PEI
1
Author Information
1. 南方医科大学南方医院儿科，广州 510510
- Publication Type:Journal Article
- Keywords:
Systemic lupus erythematosus;
Mutation;
NCF1 gene;
Whole exome sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(7):541-544
- CountryChina
- Language:Chinese
-
Abstract:
The clinical manifestations and genealogic test results of twin sisters with systemic lupus erythematosus (SLE) caused by the homozygous mutation of NCF1 treated at the Department of Pediatrics, Nanfang Hospital, Southern Medical University from May 2021 to January 2024 were reported.Case 1 (a 8-year-old girl) was admitted in May 2021 due to " epistaxis for two times and thrombocytopenia for more than 1 month", presenting tricytopenia, mainly thrombocytopenia.A homozygous mutation of NCF1 gene c. 269G > A (p.R90H) was detected in case 1, and she was subsequently diagnosed with SLE.Case 2 (a 11-year-old girl), the little sister of case 1, was admitted in January 2024 due to " repeated fever for more than 10 days, cough for 2 days, and convulsion once". The manifestations were reduced myelodysplasia, hemophagy accounted for 66%, and perineal ulcer during treatment.She was finally diagnosed with SLE and also had a homozygous mutation of NCF1 gene c. 269G > A (p.R90H).Their parents both carried the mutation.This case provides a reference for pathogenic mutations and phenotypes of NCF1.It suggests that close attention should be paid to the family history of patients in clinical diagnosis of SLE.
