Article
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Nature genetics - 1 May 2012
Roscioli Tony, Kamsteeg Erik-Jan, Buysse Karen, Maystadt Isabelle, van Reeuwijk Jeroen, van den Elzen Christa, van Beusekom Ellen, Riemersma Moniek, Pfundt Rolph, Vissers Lisenka E L M, Schraders Margit, Altunoglu Umut, Buckley Michael F, Brunner Han G, Grisart Bernard, Zhou Huiqing, Veltman Joris A, Gilissen Christian, Mancini Grazia M S, Delrée Paul, Willemsen Michèl A, Ramadža Danijela Petković, Chitayat David, Bennett Christopher, Sheridan Eamonn, Peeters Els A J, Tan-Sindhunata Gita M B, de Die-Smulders Christine E, Devriendt Koenraad, Kayserili Hülya, El-Hashash Osama Abd El-Fattah, Stemple Derek L, Lefeber Dirk J, Lin Yung-Yao, van Bokhoven Hans
Abstract excerpt
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large...
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