Abstract
RNF213 is a main susceptibility gene for moyamoya disease. Worldwide, many mutations of RNF213 have been reported in association with moyamoya disease. Among these, p.R4810K is the most frequent variant and is found in approximately 95% of patients with familial moyamoya disease and in approximately 80% of sporadic cases in Japan. The variant is strongly associated with moyamoya disease, with an odds ratio of nearly 200, but caution is necessary when it is used in clinical practice because there are approximately 2% of p.R4810K carriers who do not develop moyamoya disease in the general population. The clinical impact of the p.R4810K variant has been assessed by recent studies. Patients who are homozygous for the p.R4810K variant had an earlier onset age (mostly under the age of 4 years), and there was wider distribution (involvement of bilateral hemispheres and posterior circulation) and a more severe form of the disease with this variant. A contribution of RNF213 to various types of intracranial steno-occlusive disease including unilateral moyamoya disease, quasi-moyamoya disease, and other intracranial steno-occlusive disease was also reported. In this chapter, we will summarize genetic characteristics of moyamoya disease including familial cases and discuss clinical application of RNF213 genotyping in patients with moyamoya disease and other intracranial steno-occlusive diseases.
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Mineharu, Y., Takagi, Y., Miyamoto, S. (2017). Significance of RNF213 in Clinical Management in Japan. In: Koizumi, A., et al. Moyamoya Disease Explored Through RNF213. Current Topics in Environmental Health and Preventive Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-10-2711-6_11
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DOI: https://doi.org/10.1007/978-981-10-2711-6_11
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