Novel and recurrent RNF213 variants in Japanese pediatric patients with moyamoya disease

被引：12

作者：

Akagawa H. ^{[1
]}

Mukawa M. ^{[2
]}

Nariai T. ^{[2
]}

Nomura S. ^{[1
,3
]}

Aihara Y. ^{[3
]}

Onda H. ^{[3
,4
]}

Yoneyama T. ^{[4
]}

Kudo T. ^{[2
]}

Sumita K. ^{[2
]}

Maehara T. ^{[2
]}

Kawamata T. ^{[3
]}

Kasuya H. ^{[4
]}

机构：

[1] Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo

[2] Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo

[3] Department of Neurosurgery, Tokyo Women's Medical University, Tokyo

[4] Department of Neurosurgery, Tokyo Women's Medical University Medical Center East, Tokyo

来源：

Human Genome Variation | / 5卷 / 1期

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/hgv.2017.60

中图分类号：

学科分类号：

摘要：

Moyamoya disease is a progressive steno-occlusive condition of the main intracranial arteries that results in the compensatory formation of fragile moyamoya vessels at the base of the brain. RNF213 is the most significant susceptibility gene and is often found with the p.Arg4810Lys founder variant in East Asian patients. We identified three putatively deleterious variants of this gene from three pediatric patients: two were novel, and one was a recurrent missense variant previously reported in other pediatric patients.

引用

共 22 条

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