Abstract
In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). Cosegregation of the variants with MMD, as well as a previous report of a variant affecting the same amino acid residue in unrelated MMD patients, supports the role of RNF213 in the pathogenesis of MMD.
Highlights
1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; Moyamoya (MM) is a rare cerebrovascular disorder that is characterized by a high rate of stroke and frequent recurrence
We analyzed a white European family from the UK with six relatives affected with MM disease (MMD) over three generations (Fig. 1a)
In an attempt to find a genetic cause of MMD in this family, two affected and three unaffected members of the family underwent whole-exome sequencing to an average coverage of 104.6× such that, on average, 96.2% of the exome capture target regions was covered by at least 20×
Summary
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Gagunashvili[1], Louise Ocaka[1], Daniel Kelberman[1], Pinki Munot[2], Chiara Bacchelli[1], Philip L. Beales[1] and Vijeya Ganesan[2,3]
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