Objectives: To explore the pathogenesis

clinical features

diagnosis and treatment methods of moyamoya disease (MDD) induced by RNF213 gene mutation. Methods: Clinical data of a child with MMD was retrospectively analyzed

and literature of MMD induced by RNF213 gene mutation were reviewed. Results: A 11-month-old child was brought to visit the clinic of our hospital for the first time

the clinical manifestations were recurrent nonfebrile convulsion and generalized tetanic seizure. Head MRI diffusion weighted imaging (DWI) sequence showed multiple abnormal high signals in bilateral frontal lobes

parietal lobes

right corona radiata

semicircular center and watershed. Digital subtraction angiography showed cerebral artery stenosis

and multiple peripheral collateral hemangiomas were formed. Whole exome sequencing showed that the child was a heterozygous mutation of RNF213 gene c.C12040T>C

and neither father nor mother had any variation at this site

which was a new mutation. No site-related variation was found in the 1

000 Genome Project (1KGP)

Exome Sequencing Project (ESP6500) and Exome Aggregation Consortium (ExAC) databases. Several bioinformatics softwares predicted that the mutation of this site was pathogenic. Conclusion: Mutation of RNF213 gene can lead to MMD. The gene mutations identified in this study are reported for the first time

which expands the gene mutation spectrum of MMD.