アカガワ　ヒロユキ   AKAGAWA Hiroyuki   赤川　浩之    所属   研究施設 研究施設    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.
掲載誌名	正式名：Brain & development 略　 称：Brain Dev ISSNコード：(1872-7131)0387-7604(Linking)
掲載区分	国外
巻・号・頁	41(9),pp.812-816
著者・共著者	Moteki Yosuke†, Akagawa Hiroyuki, Niimi Yasunari, Okada Yoshikazu, Kawamata Takakazu
担当区分	2nd著者,責任著者
発行年月	2019/10
概要	Capillary malformation-arteriovenous malformation (CM-AVM, MIM#608354) is a rare autosomal dominant disorder characterized by multiple cutaneous capillary malformations co-occurring with fast-flow vascular anomalies, such as arteriovenous malformation or fistula. Despite the identification of RASA1 as the first causative gene in Western patients with CM-AVM, there have been no literature reports of Japanese patients with this gene mutation. We herein report two Japanese pedigrees harboring multiple affected members with CM-AVM. Whole-exome sequencing in the two probands identified novel heterozygous mutations in RASA1, which were co-segregated with the disease in each family and were not reported in large-scale sequencing databases. One was a frameshift mutation and the other a splice-site mutation causing aberrant splicing, confirmed by a minigene assay. There were no other genes commonly disrupted among these probands. RASA1 was a major causative gene even in Japanese patients with CM-AVM, although obvious locus heterogeneity was known for this disease.
DOI	10.1016/j.braindev.2019.06.003
PMID	31230861