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KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation.

ABSTRACT: 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.

SUBMITTER: Hirota K

PROVIDER: S-EPMC5052485 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation.

Hirota Kengo K Akagawa Hiroyuki H Kikuchi Asami A Oka Hideki H Hino Akihiko A Mitsuyama Tetsuryu T Sasaki Toshiyuki T Onda Hideaki H Kawamata Takakazu T Kasuya Hidetoshi H

Human genome variation 20161006

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, ...[more]

PMID: 27766163

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