Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Andrey N Gagunashvili; Louise Ocaka; Daniel Kelberman; Pinki Munot; Chiara Bacchelli; Philip L Beales; Vijeya Ganesan

doi:10.1038/s41439-019-0066-6

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Hum Genome Var. 2019 Aug 8:6:35. doi: 10.1038/s41439-019-0066-6. eCollection 2019.

Authors

Andrey N Gagunashvili¹, Louise Ocaka¹, Daniel Kelberman¹, Pinki Munot², Chiara Bacchelli¹, Philip L Beales¹, Vijeya Ganesan^{2

3}

Affiliations

¹ 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
² 2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
³ 3Clinical Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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.

Keywords: Genetics research; Stroke.