Hum Genome Var. 2018 Dec 5;6:1. doi: 10.1038/s41439-018-0032-8. eCollection 2019.
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation.
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 in OPHN1 ranging from exon 11-15. This is the first report of an OPHN1 deletion in a Japanese patient with DWM.