Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G>A variant in RNF213

Takeshi Inoue, Nobuyuki Murakami, Satoru Sakadume, Yasuhiro Kido, Astuo Kikuchi, Natsuko Ichinoi, Kensuke Suzuki, Shigeo Kure, Ryoichi Sakuta

研究成果: Article査読

2 被引用数 (Scopus)

抄録

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 in RNF213. The boy's mother had no neurological symptoms, but sequencing of RNF213 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 > A variant in RNF213. Genetic testing for RNF213 is suggested for family member screening.

本文言語English
ページ(範囲)798-801
ページ数4
ジャーナルPediatrics International
57
4
DOI
出版ステータスPublished - 2015 8 1
外部発表はい

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

フィンガープリント 「Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G>A variant in RNF213」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル