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). Issue 5 (11th March 2013)

• Record Type: Journal Article
• Authors: Sun, Yu; Almomani, Rowida; Breedveld, Guido J.; Santen, Gijs W.E.; Aten, Emmelien; Lefeber, Dirk J.; Hoff, Jorrit I.; Brusse, Esther; Verheijen, Frans W.; Verdijk, Rob M.; Kriek, Marjolein; Oostra, Ben; Breuning, Martijn H.; Losekoot, Monique; den, Johan T.; van de, Bart P.; Maat‐Kievit, Anneke J.A.
• Is Part Of: Human mutation. Volume 34:Issue 5(2013:May)
• Page Start: 706
• Page End: 713
• Publication Date: 2013-03-11
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22292
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22292-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Exome sequencing revealed <italic>TPP1</italic> as the causative gene for autosomal recessive spinocerebellar ataxia type 7 (SCAR7). A missense and a splice site variant in <italic>TPP1</italic>, cosegregating with the disease, were found in two SCAR7 families. <italic>TPP1</italic>, 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 <italic>TPP1</italic> variants to SCAR7. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1xtvcvvr" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>