A novel missense variant of RNF213 in a family with moyamoya disease: A case report and literature review

doi:10.11817/j.issn.1673-9248.2023.05.012

Abstract

Abstract:

Objective

To understand the characteristics of gene mutation of familial moyamoya disease.

Methods

A family of moyamoya disease and their immediate relatives were subjected to gene testing between 2014 and 2016 at People's of Hospital of Bejing Daxing District. Peripheral venous blood of the proband and his relatives were collected. Gene sequencing was performed by DNA exon sequencing, and head MRI+MRA was performed.

Results

Gene sequencing showed that the patient and his mother, brother, cousin, grandmother, aunt, cousin, uncle, and nephew carried c.14399A＞G (p.N4800S) heterozygous variants of RNF213 gene. The patient's father, daughter, and nephew did not have this RNF213 variant. Imaging examination found that the proband, his brother, and cousin had moyamoya disease.

Conclusion

RNF213 may be a rare pathogenic gene of moyamoya disease in Han population.

Key words: Moyamoya disease, RNF 213, Genetics, Stroke, Genetic variation

Haihua Yang, Jinglin Yuan, Xiaomei Zhou, Junwei Niu. A novel missense variant of RNF213 in a family with moyamoya disease: A case report and literature review[J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2023, 17(05): 495-498.

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URL: https://zhnxgbzz.cma-cmc.com.cn/EN/10.11817/j.issn.1673-9248.2023.05.012

https://zhnxgbzz.cma-cmc.com.cn/EN/Y2023/V17/I05/495

Figures/Tables 3

References 15

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