KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation

被引：0

作者：

Hirota K. ^{[1
,2
]}

Akagawa H. ^{[2
]}

Kikuchi A. ^{[1
]}

Oka H. ^{[3
]}

Hino A. ^{[3
]}

Mitsuyama T. ^{[4
]}

Sasaki T. ^{[1
]}

Onda H. ^{[1
]}

Kawamata T. ^{[1
]}

Kasuya H. ^{[1
,2
]}

机构：

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

[2] Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo

[3] Department of Neurosurgery, Saiseikai Shigaken Hospital, Shiga

[4] Department of Neurosurgery, Shinagawa Shishokai Hospital, Tokyo

来源：

Human Genome Variation | / 3卷 / 1期

关键词：

D O I：

10.1038/hgv.2016.32

中图分类号：

学科分类号：

摘要：

Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing. © 2016 The Author(s).

引用

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