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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.
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Details
1 UCL Great Ormond Street Institute of Child Health, GOSgene, Genetics and Genomic Medicine, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201)
2 Great Ormond Street Hospital for Children NHS Foundation Trust, Neurology Department, London, UK (GRID:grid.424537.3) (ISNI:0000 0004 5902 9895)
3 Great Ormond Street Hospital for Children NHS Foundation Trust, Neurology Department, London, UK (GRID:grid.424537.3) (ISNI:0000 0004 5902 9895) ; UCL Great Ormond Street Institute of Child Health, Clinical Neurosciences, London, UK (GRID:grid.83440.3b) (ISNI:0000000121901201)