title: KRIT1mutations 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 byde novoformation of multiple lesions and are autosomal-dominantly inherited viaCCM1/KRIT1,CCM2/MGC4607andCCM3/PDCD10mutations. We identified three truncating mutations inKRIT1from 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.
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University Medical Center East, Tokyo, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Kengo
authors.initials: K
authors.lastname: Hirota
authors.affiliation: Tokyo Women's Medical University Institute for Integrated Medical Sciences , Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Akagawa
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University Medical Center East , Tokyo, Japan.
authors.forename: Asami
authors.initials: A
authors.lastname: Kikuchi
authors.affiliation: Department of Neurosurgery, Saiseikai Shigaken Hospital , Shiga, Japan.
authors.forename: Hideki
authors.initials: H
authors.lastname: Oka
authors.affiliation: Department of Neurosurgery, Saiseikai Shigaken Hospital , Shiga, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Hino
authors.affiliation: Department of Neurosurgery, Shinagawa Shishokai Hospital , Tokyo, Japan.
authors.forename: Tetsuryu
authors.initials: T
authors.lastname: Mitsuyama
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Sasaki
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University Medical Center East, Tokyo, Japan; Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Onda
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University , Tokyo, Japan.
authors.forename: Takakazu
authors.initials: T
authors.lastname: Kawamata
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University Medical Center East, Tokyo, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Kasuya