Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K
Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K
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DOI：
10.1016/j.braindev.2014.12.006
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发表时间：
2015-09-01
影响因子：
1.7
通讯作者：
Kira, Ryutaro
中科院分区：
文献类型：
--
作者：
Chong, Pin Fee;Ogata, Reina;Kira, Ryutaro
烟雾综合征是一种独特的进行性闭塞性脑血管病，易使患者发生卒中。我们描述的情况下，一个2岁的女孩提出了早发性烟雾综合征并发唐氏综合征。基因检测显示RNF 213的杂合错义变体。RNF 213最近被确定为烟雾病患者的第一个易感基因，没有已知的相关危险因素。报告的具有杂合RNF 213风险变体的特发性烟雾病发病时的中位年龄为7岁，而唐氏综合征中烟雾综合征发病时的平均年龄为7-16岁。唐氏综合征和RNF 213变异体以不同的方式促进烟雾病血管病变的发展。尽管其潜在机制尚未完全了解，但在该患者中观察到早发性的累加效应。关于RNF 213和烟雾综合征之间的潜在联系知之甚少。基于这些观察结果，我们假设RNF 213风险变体在狭窄闭塞性血管病变中具有修饰效应，即使在已知与烟雾综合征相关的医学状况中也是如此。(C)2014年日本儿童神经病学学会。Elsevier B. V.出版，保留所有权利。
Moyamoya syndrome is a unique progressive occlusive cerebrovascular disease that predisposes affected patients to stroke. We describe the case of a 2-year-old girl presenting with early onset of moyamoya syndrome with concurrent Down syndrome. Genetic testing revealed a heterozygous missense variant of RNF213. RNF213 was recently identified as the first susceptibility gene for moyamoya disease in patients with no known associated risk factors. The reported median age at the onset of idiopathic moyamoya disease with a heterozygous RNF213 risk variant is 7 years, while, the average age at onset of moyamoya syndrome in Down syndrome is 7-16 years. Down syndrome and RNF213 variant contribute to the development of moyamoya vasculopathy in different ways. Although the underlying mechanism is not fully understood, an additive effect was observed with the early-onset seen in this patient. Little is known about the potential association between RNF213 and moyamoya syndrome. Based on these observations, we hypothesize that the RNF213 risk variant has a modifier effect in steno-occlusive vasculopathy, even in medical conditions known to be associated with moyamoya syndrome. (C) 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.