A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.
复制标题
日本 Dandy-Walker 畸形患者 OPHN1 中出现新的基因内缺失。
DOI：
10.1038/s41439-018-0032-8
复制
发表时间：
2019
影响因子：
1.5
通讯作者：
Goto YI
中科院分区：
文献类型：
--
作者：
Iida A;Takeshita E;Kosugi S;Kamatani Y;Momozawa Y;Kubo M;Nakagawa E;Kurosawa K;Inoue K;Goto YI
Dandy-Walker畸形（DWM）是一种罕见的先天性畸形，由小脑蚓部发育不全和第四脑室囊性扩张定义。寡聚蛋白-1在伴或不伴小脑发育不全的X连锁智力残疾中突变在这里，我们报告了一个日本DWM患者携带一个新的基因内13.5 kb缺失inOPHN 1外显子11-15。这是日本DWM患者OPHN 1缺失的首次报道。
Dandy-Walker malformation (DWM) is a rare congenital malformation defined by hypoplasia of the cerebellar vermis and cystic dilatation of the fourth ventricle. Oligophrenin-1 is mutated in X-linked intellectual disability with or without cerebellar hypoplasia. Here, we report a Japanese DWM patient carrying a novel intragenic 13.5-kb deletion inOPHN1ranging from exon 11–15. This is the first report of anOPHN1deletion in a Japanese patient with DWM.