Three Cases of Familial Moyamoya Disease with RASA1 Mutations—A Case Report

Abstract

The prevalence of moyamoya disease (MMD) is relatively high in East Asia, whereas the susceptibility genes of MMD have not been identified. Here, we reported 3 patients diagnosed with MMD from 1 single family, including a 53-year-old mother (case 1) and her 32-year-old and 29-year-old daughters (cases 2 and 3). The younger daughter was diagnosed with cerebral hemorrhage. Computed tomographic angiogram showed the typical signs of MMD in 3 patients. Clinical whole-exome sequencing was performed in 3 daughters of case 1, and RASA1 mutations in chr5: 87,376,389 and NM_002890.2: c.2012-4C>T were determined to have the strongest correlation with MMD. RASA1 mutations were verified in case 1, husband of case 1 and the descendant of case 3 by using Sanger sequencing. According to the findings of literature review, this is the first study indicating the association between RASA1 mutations and MMD.