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AKAGAWA HIROYUKI
Department Research Institutes and Facilities, Research Institutes and Facilities Position Associate Professor |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation. |
| Journal | Formal name：Brain & development Abbreviation：Brain Dev ISSN code：(1872-7131)0387-7604(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 41(9),pp.812-816 |
| Author and coauthor | Moteki Yosuke†, Akagawa Hiroyuki, Niimi Yasunari, Okada Yoshikazu, Kawamata Takakazu |
| Authorship | 2nd author,Corresponding author |
| Publication date | 2019/10 |
| Summary | 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 |