Abstract
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.
Original language | English |
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Article number | 1 |
Journal | Human Genome Variation |
Volume | 6 |
Issue number | 1 |
DOIs | |
Publication status | Published - 01-12-2019 |
All Science Journal Classification (ASJC) codes
- Biochemistry
- Molecular Biology
- Genetics