RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
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患有 PHACE 综合征和烟雾病血管病的儿童中的 RNF213 变异。
DOI：
10.1002/ajmg.a.38258
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Siegel,DawnH
中科院分区：
文献类型：
--
作者：
Schilter,KalaF;Steiner,JackE;Demos,Wendy;Maheshwari,Mohit;Prokop,JeremyW;Worthey,Elizabeth;Drolet,BethA;Siegel,DawnH
节段性婴儿血管瘤（IH）可以与先天性异常的区域分布。PHACE是指与主动脉弓和头颈部中型动脉的先天性异常以及后颅窝和眼睛的结构异常相关的大型颈面部节段性IH。一部分PHACE患者的动脉异常进展为烟雾病血管病变（MMV）。MMV定义为颈内动脉床突上段和/或其主要分支狭窄，随后形成代偿性侧支血管网络。我们描述了一个MMV和节段IH的背部和下半身谁符合诊断标准的PHACE的基础上后段眼异常和脑动脉异常的患者。全外显子测序证实RNF 213中存在两种遗传杂合变体。RNF 213变异与MMV易感性增加有关。我们的研究结果表明RNF 213变异体可能在先天性脑动脉畸形相关的血管瘤综合征患者MMV的发生中起作用。
Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH in association with congenital anomalies of the aortic arch and medium‐sized arteries of the head and neck, as well as structural anomalies of the posterior fossa and eye. A subset of PHACE patients have arterial anomalies that progress to moyamoya vasculopathy (MMV). MMV is defined as stenosis of the supraclinoid segment of the internal carotid arteries and/or their major branches, with subsequent development of a compensatory collateral vessel network. We describe a patient with MMV and segmental IH on the back and lower body who meets diagnostic criteria for PHACE based on a posterior segment eye anomaly and cerebral arterial anomalies. Whole exome sequencing demonstrated two inherited heterozygous variants inRNF213. Variants inRNF213are associated with increased susceptibility to MMV. Our findings suggest thatRNF213variants may play a role in the development of MMV in patients with hemangioma syndromes associated with congenital cerebral arterial anomalies.