Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan Tony Roscioli , Erik-Jan Kamsteeg , Karen Buysse , Isabelle Maystadt , Jeroen van Reeuwijk , Christa van den Elzen , Ellen van Beusekom , Moniek Riemersma , Rolph Pfundt , Lisenka E L M Vissers , Margit Schraders , Umut Altunoglu , Michael F Buckley , Han G Brunner , Bernard Grisart , Huiqing Zhou , Joris A Veltman , Christian Gilissen , Grazia M S Mancini , Paul Delrée , Michèl A Willemsen , Danijela Petković Ramadža , David Chitayat , Christopher Bennett , Eamonn Sheridan , Els A J Peeters , Gita M B Tan-Sindhunata , Christine E de Die-Smulders , Koenraad Devriendt , Hülya Kayserili , Osama Abd El-Fattah El-Hashash , Derek L Stemple , Dirk J Lefeber , Yung-Yao Lin , Hans van Bokhoven Nature Genetics（2012）
摘要
Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus, reduced eye size, muscle degeneration and α-dystroglycan hypoglycosylation.
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