Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Rob M. Verdijk, Marjolein Kriek, Ben Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg and Anneke J.A. Maat-Kievit Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease) Human Mutation 34
Exome sequencing revealed TPP1 as the causative gene for autosomal recessive spinocerebellar ataxia type 7 (SCAR7). A missense and a splice site variant in TPP1, cosegregating with the disease, were found in two SCAR7 families. TPP1, encoding the tripeptidyl peptidase 1 enzyme, is known as the causative gene for neuronal ceroid lipofuscinosis disease 2 (CLN2). Our findings now expand the phenotypes related to TPP1 variants to SCAR7.
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