Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213. Issue 4 (August 2015)

• Record Type: Journal Article
• Authors: Inoue, Takeshi; Murakami, Nobuyuki; Sakadume, Satoru; Kido, Yasuhiro; Kikuchi, Astuo; Ichinoi, Natsuko; Suzuki, Kensuke; Kure, Shigeo; Sakuta, Ryoichi
• Is Part Of: Pediatrics international. Volume 57:Issue 4(2015)
• Page Start: 798
• Page End: 801
• Publication Date: 2015-08
• Subjects: Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12689
• Languages: English
• ISSNs: 1328-8067

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>Moyamoya disease (MMD) is a chronic steno‐occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (<italic>RNF213</italic>) 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 &gt; A (formerly described as c.14576G &gt; A) variant in <italic>RNF213</italic>. The boy's mother had no neurological symptoms, but sequencing of <italic>RNF213</italic> showed 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 &gt; A variant in <italic>RNF213</italic>. Genetic testing for <italic>RNF213</italic> is suggested for family member screening.</p> </abstract>