|
YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
|
| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. |
| Journal | Formal name：Brain & development Abbreviation：Brain Dev ISSN code：(1872-7131)0387-7604(Linking) |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 37(7),pp.714-8 |
| Author and coauthor | Mimaki M, Shiihara T, Watanabe M, Hirakata K, Sakazume S, Ishiguro A, Shimojima K, Yamamoto T, Oka A, Mizuguchi M |
| Publication date | 2015/08 |
| Summary | We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting of holoprosencephaly and cerebellar vermis hypoplasia. Array comparative genomic hybridization analysis revealed a pure terminal deletion of 13q31.3q34 in one patient and a mosaic ring chromosome with 13q32.2q34 deletion in the other. Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). The rare concurrence of these major brain malformations in our patients provides further evidence that 13q32.2q32.3 deletion, harboring ZIC2 and ZIC5, leads to cerebellar dysgenesis. |
| DOI | 10.1016/j.braindev.2014.10.009 |
| PMID | 25454392 |