Erratum

Abstract

Neuropathology and Applied NeurobiologyVolume 38, Issue 2 p. 220-220 Free Access Erratum This article corrects the following: A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene D. Hong, Z. Wang, W. Zhang, J. Xi, J. Lu, X. Luan, Y. Yuan, Volume 37Issue 3Neuropathology and Applied Neurobiology pages: 257-270 First Published online: February 22, 2011 First published: 05 March 2012 https://doi.org/10.1111/j.1365-2990.2012.01249.xAboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat The authors regret that a mistake in Figure 4, in which clearly summarized the known desmin (DES) mutations, was made in our manuscript 1. We searched for known DES mutations from the Leiden Open Variation Database (LOVD), Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Man (OMIM). Unfortunately, a DES mutation located in helix 1B domain was recorded as K241fsX244 in these databases, which was originally described as K239fsX242 in a paper published by Schröder et al. 2. Later, the K239fsX242 mutation was corrected as K240del in a corrigendum published in 2007 3. We also neglected the obvious mistake in our manuscript. Therefore, we prepare a corrected figure in this erratum (Figure 1). Figure 1. Schematic structure of the human desmin protein domain and the distribution of known mutations associated with desminopathy. The six novel mutations identified in this study are underlined in the figure: S12F mutation in the head domain in family 1; L274P mutation in helix 2A of the rod domain in family 2; L274R mutation in helix 2A of the rod domain in family 3; E457V mutation in the tail domain in family 4; R355P mutation in helix 2B of the rod domain in family 5; Q113fsX115 deletion mutation in helix 1A of the rod domain in sporadic case 1; and T445A mutation in the tail domain in sporadic case 2. The known mutations associated with desminopathy are from the Leiden Open Variation Database (LOVD), Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Man (OMIM). Correction footnote: modifications of the figure. K241fsX244 was corrected to K240del. A novel N116S mutation was added 4, and A213V polymorphism was deleted according to the recent findings 5. In addition, we noticed two important advances about the DES mutation after our publication: (i) a de novo N116S mutation located in helix 1A was described in a patient with arrhythmogenic right ventricular cardiomyopathy 4; (ii) the mutation A213V located in helix 1B represented a rare polymorphism (approximately 1%) but not a mutation in various origins 5. We modified the mutation spectrum in the figure. Acknowledgement We thank Dr Andreas Brodehl (Heart and Diabetes Center NRW, Germany) for pointing to the mistake in our manuscript. References 1 Hong D, Wang Z, Zhang W, Xi J, Lu J, Luan X, Yuan Y. A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. Neuropathol Appl Neurobiol 2011; 37: 257– 70Wiley Online LibraryCASPubMedWeb of Science®Google Scholar 2 Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003; 12: 657– 69CrossrefCASPubMedWeb of Science®Google Scholar 3 Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2007; 16: 2989– 90CrossrefCASWeb of Science®Google Scholar 4 Klauke B, Kossmann S, Gaertner A, Brand K, Stork I, Brodehl A, Dieding M, Walhorn V, Anselmetti D, Gerdes D, Bohms B, Schulz U, Zu Knyphausen E, Vorgerd M, Gummert J, Milting H. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet 2010; 19: 4595– 607CrossrefCASPubMedWeb of Science®Google Scholar 5 Kostareva A, Sjoberg G, Gudkova A, Smolina N, Semernin E, Shlyakhto E, Sejersen T. Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins. Acta Myol 2011; 30: 42– 5CASPubMedGoogle Scholar Volume38, Issue2April 2012Pages 220-220 ReferencesRelatedInformation