The site is secure. Neurol. Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. Petak A, otari-Zuckermann IC, Hohteter M, Lemo N. Vet Sci. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. (Paris) 26, 177184 (2010). Kienesberger, P.C., Oberer, M., Lass, A. Science 325, 995998 (2009). Internet Explorer). Sign up for the Nature Briefing newsletter what matters in science, free to your inbox daily. Heterozygous Carriers (1-2) are not expected to develop signs of Ichthyosis (ICH-2) but each of their offspring has a chance of inheriting a disease variant allele. Comp. 2015 Aug;26(4):265-e57. C.D. Demerjian, M., Crumrine, D.A., Milstone, L.M., Williams, M.L. official website and that any information you provide is encrypted These are essential in developing a strong immune system that can help Golden Retrievers fight skin infections and other possible complications. Open Access articles citing this article. Federal government websites often end in .gov or .mil. & Hinds, D.A. Treatments were administered initially twice weekly for two weeks, then once weekly for two weeks and finally once monthly. The site is secure. Nat Genet. Google Scholar. 18, 671674 (2008). Google Scholar. government site. J. Lipid Res. Acta 1791, 519523 (2009). A.T. provided 400 dog DNA samples and performed validation of the mutation in dogs. et al. Ichthyosis is a skin condition that is most commonly seen in Golden Retrievers. This is a preview of subscription content, access via your institution. Grall A, Guagure E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andr C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Golden retrievers that are not carriers of the mutation have no increased risk of having affected pups. PMC & Elias, P.M. Careers. 2010;26:177184. To examine the efficacy of topical treatment based on gluconolactone, a polyhydroxy acid with known beneficial effects on stratum corneum structure. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. J. Fischer designed the human genetic analyses and supervised the functional studies on humans. 129, 13191321 (2009). Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation. Nat. Guaguere E, Bensignor E, Kry S, Degorce-Rubiales F, Muller A, Herbin L, Fontaine J, Andr C. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. Dermatol. J. Lipid Res. J. Med. The condition often progresses to large patches of thickened, black, scaly skin. Pichery M, Huchenq A, Sandhoff R, Severino-Freire M, Zaafouri S, Oplka L, Levade T, Soldan V, Bertrand-Michel J, Lhuillier E, Serre G, Maruani A, Mazereeuw-Hautier J, Jonca N. Hum Mol Genet. the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Disclaimer. DOI: 10.1038/ng.1056 Corpus ID: 8427389; PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans @article{Grall2012PNPLA1MC, title={PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans}, author={Ana{\"i}s Grall and {\'E}ric Guagu{\`e}re and Sandrine Planchais and Susanne Grond and E. Bourrat and Ingrid . Methods 7, 248249 (2010). Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). J. Hum. ISSN 1546-1718 (online) 2010;63:607641. and transmitted securely. Akiyama, M. et al. This site needs JavaScript to work properly. Ichthyosis is a hereditary skin condition affecting Golden Retrievers that is caused by a genetic mutation. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. Article 47, 19401949 (2006). CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. 283, 1721117220 (2008). PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. PMC 2022 Aug 15;9(8):433. doi: 10.3390/vetsci9080433. Would you like email updates of new search results? A non-epidermolytic ichthyosis (NI) is typically characterised by a prominent granular layer, with the presence of numerous mitotic figures in the keratinocytes, with marked lamellar. Zimmermann, R., Lass, A., Haemmerle, G. & Zechner, R. Fate of fat: the role of adipose triglyceride lipase in lipolysis. 2017;59(4):475-482. doi: 10.24953/turkjped.2017.04.017. Please collect the sample following the sample collection and shipping instructions before ordering a test. & Ostrander, E.A. 2017 May 15;26(10):1787-1800. doi: 10.1093/hmg/ddx079. 173, 13491360 (2008). The mutation prevents the outer layer of skin from developing properly. Ann. Karlsson, E.K. In golden retrievers, a hereditary nonepidermolytic retention ichthyosis was diagnosed and described for the first time in 2007 (refs. Epub 2015 Apr 30. In human medicine, isotretinoin is frequently used to treat ARCIs. The frequent use of a shampoo and lotion containing gluconolactone may be an effective measure to improve skin scaling in golden retrievers with ARCI. Adzhubei, I.A. Vet. formation of the corneocyte core) [5, 11, 24]. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Gregory, A. et al. Genet. 25 June 2020, Receive 12 print issues and online access, Get just this article for as long as you need it, Prices may be subject to local taxes which are calculated during checkout. Genet. 8, R107 (2007). Before 63, 607641 (2010). PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. Nat Genet 44, 140147 (2012). -. It affects both sexes but is only inherited maternally. Get the most important science stories of the day, free in your inbox. 34, 35 ). DiGiovanna J J et al (2013) Systemic retinoids in the management of ichthyosis and related skin types. Med. National Library of Medicine Please collect the sample following the sample collection and shipping instructions before ordering a test. Weight loss and lethargy are associated with ICH-2. Cadiergues, M.C. et al. ^oTpm{,m7 The intensity coat color gene variant causes an extreme dilution of phaeomelanin (red or yellow pigment), resulting in a cream to white coat in dogs. There are two forms of Ichthyosis in the Golden Retriever. Congenital Ichthyosis in Golden Retrievers Quick Summary Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. Make a Gift to the UC Davis School of Veterinary Medicine, School of Veterinary Medicine - Social Media Hub, VIPERFacultyAlumniFuture Veterinary Medical CenterCampus Directory. Vet. 4, 13911395 (1995). PMID: 19413748. An Inherited Congenital Disorder Cindy Williamson of Harford County, Md., who breeds Golden Retrievers under the Lycinan prefix, describes unknow - ingly breeding litters with ichthyosis since 1992. Disclaimer. iSA)p;rAIS06x0w)(h^towKbesL$N$m. J. Pathol. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Histopathology showed diffuse, laminated-to-compact hyperkeratosis with a single small perinuclear vacuole in occasional stratum granulosum keratinocytes. J. Hum. A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle, Description of breed ancestry and genetic health traits in arctic sled dog breeds, Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs, Lipolysis: cellular mechanisms for lipid mobilization from fat stores, Cancel Tan, E.K., Ho, P., Tan, L., Prakash, K.M. sharing sensitive information, make sure youre on a federal Gao, J.G., Shih, A., Gruber, R., Schmuth, M. & Simon, M. GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion. Unable to load your collection due to an error, Unable to load your delegates due to an error. (a) In these dogs, generalized scaling, with white or blackish scales, and large ichthyosiform adherent scales are. Am. CNRS and Universit Rennes 1 (including C.A., E.G. National Library of Medicine Careers. 40, 14611465 (2008). Animals: Epub 2015 Apr 30. Genet. Picture before (, Histopathological changes in skin biopsies in a golden retriever with autosomal recessive congenital ichthyosis (ARCI), before (. Ichthyosis Golden Retriever Ichthyosis May Be Underdiagnosed Due to Seborrhea Similarity Print/Download PDF When a scaling skin disorder first showed up in Golden Retrievers in the 1990s, it was frequently misdiagnosed as seborrhea, a condition that also causes scaling and dandruff. Characterization of the human patatin-like phospholipase family. 9, 279283 (1995). Mol. I.H. Vaillant, A. Muller and other veterinarians for providing us with clinical data and samples, as well as dog owners and breeders, especially J. Robidou, B. Facq, V. d'Alcantara and C. de Vinck. `aIt;|^)VU/sr>Zr1#&;a#|GL$ ++A;x[~C:KI[*Xf MeSH 2005 Jul;153(1):51-8 and transmitted securely. "The veterinar - ian suggested it was 'walking dandruff,' -, PLoS One. Grall A, Guagure E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andr C, Fischer J. Nat Genet. HHS Vulnerability Disclosure, Help Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family. I.H. There are two forms of Ichthyosis in the Golden Retriever. Dermatol. Small Anim. This progressive neurological disorder manifests as behavioral changes coupled with a loss of coordination and blindness. Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. Click here for Price and Turnaround Time Grall A, Guagure E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Kry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, Andr C, Fischer J. Nat Genet. Provided by the Springer Nature SharedIt content-sharing initiative, Nature Genetics (Nat Genet) There are two forms of Ichthyosis in the Golden Retriever. 40, 543546 (2003). Klar, J. et al. Introduction There are many skin disorders that are recognized in puppies, with a variety of etiologies. 132, 99209927 (2010). Neuromuscul. The https:// ensures that you are connecting to the Small Anim. We thank P. Roosje and T. Leeb (University of Bern, Switzerland) for providing six Swiss golden retriever samples.