a missense mutation in canine cln6 in an australian shepherd with neuronal ceroid lipofuscinosis一个错义突变犬cln6在澳大利亚牧羊犬神经元ceroid lipofuscinosis.pdfVIP

Hindawi Publishing Corporation Journal of Biomedicine and Biotechnology Volume 2011, Article ID 198042, 6 pages doi:10.1155/2011/198042 Research Article A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis Martin L. Katz,1, 2 Fabiana H. Farias,2 Douglas N. Sanders,1 Rong Zeng,2 Shahnawaz Khan,2 Gary S. Johnson,2 and Dennis P. O’Brien3 1 Mason Eye Institute, School of Medicine, College of Veterinary Medicine, University of Missouri, One Hospital Drive, Columbia, MO 65212, USA 2 Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA 3 Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA Correspondence should be addressed to Martin L. Katz, katzm@ Received 10 August 2010; Accepted 22 October 2010 Academic Editor: Monica Fedele Copyright © 2011 Martin L. Katz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately fatal. An Australian Shepherd that exhibited a progressive neurological disorder with signs similar to human NCL was evaluated. The cerebral cortex, cerebellum, and retina were found to contain massive accumulations of autofluorescent inclusions characteristic of the NCLs. Nucleotide sequence analysis of DNA from the affected dog identified a T to C variant (c.829TC) in exon 7 of CLN6. Mutations in the human ortholog underlie a late-infantile form of NCL in human