Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.
Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.
复制标题
涉及杂合子 c.14429G > RNF213 变异的家族病例中烟雾病的不同表型。
DOI：
10.1111/ped.12689
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Sakuta R.
中科院分区：
文献类型：
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作者：
Inoue T;Murakami N;Sakadume S;Kido Y;Kikuchi A;Ichinoi N;Suzuki K;Kure S;Sakuta R.
烟雾病（MMD）是一种慢性狭窄闭塞性动脉病，涉及异常侧支血管的发展。17q25.3基因座上的环指蛋白（RNF213）被确定为东亚人群中的MMD易感基因。我们报告一名5岁日本男孩，诊断为脑梗死和单侧MMD。磁共振血管造影（MRA）显示左侧颈内动脉（伊卡）、左侧伊卡末端部分和大脑后动脉左侧起点严重狭窄。基因测试表明RNF 213中存在杂合c.14429G > A（以前描述为c.14576G > A）变体。男孩的母亲没有神经系统症状，但RNF213序列显示相同的变异，MRA显示双侧伊卡末端狭窄。据我们所知，这是第一次报告，不同的MMD表型在一个家族性病例涉及相同的杂合子c.14429G > A变异inRNF213。RNF213基因检测可作为家庭成员筛查的参考。
Moyamoya disease (MMD) is a chronic steno‐occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (RNF213) on the 17q25.3 locus was identified as an MMD‐susceptibility gene in East Asian populations. We report a 5‐year‐old Japanese boy diagnosed with cerebral infarction and unilateral MMD. Magnetic resonance angiography (MRA) showed severe stenosis of the left internal carotid artery (ICA), terminal portion of the left ICA, and left origin of the posterior cerebral artery. Genetic testing indicated a heterozygous c.14429G > A (formerly described as c.14576G > A) variant inRNF213. The boy's mother had no neurological symptoms, but sequencing ofRNF213showed the same variant, and MRA indicated stenosis of the terminal bilateral ICA. This is the first report, to our knowledge, of different MMD phenotypes in a familial case involving the same heterozygous c.14429G > A variant inRNF213. Genetic testing forRNF213is suggested for family member screening.