Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

Hum Genome Var. 2018 Jan 25;5:17060. doi: 10.1038/hgv.2017.60. eCollection 2018.


Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant in East Asian patients. We identified three putatively deleterious variants of this gene from three pediatric patients: two were novel, and one was a recurrent missense variant previously reported in other pediatric patients.