congenital ichthyosis golden retriever

Oct 21, 2023

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. Open Access The site is secure. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Is "milk crust" a transient form of golden retriever ichthyosis? Clipboard, Search History, and several other advanced features are temporarily unavailable. This study was supported by CNRS, the European Commission (FP7-LUPA, GA-201370). Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. Sixteen golden retriever dogs with clinical signs of ARCI and PCR-confirmed PNPLA1 gene mutation. Med. Clinical, histopathological and ultrastructural analysis of golden retriever ichthyosis. See this image and copyright information in PMC. Muscle Nerve 36, 856859 (2007). Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. eCollection 2023 Feb. Lyu Y, Guan Y, Deliu L, Humphrey E, Frontera JK, Yang YJ, Zamler D, Kim KH, Mohanty V, Jin K, Mohanty V, Liu V, Dou J, Veillon LJ, Kumar SV, Lorenzi PL, Chen Y, McAndrews KM, Grivennikov S, Song X, Zhang J, Xi Y, Wang J, Chen K, Nagarajan P, Ge Y. Ichthyosis (Golden Retriever Type 1) 2022 Aug 25;36(13-14):822-42. doi: 10.1101/gad.349662.122. Neurol. Invest. To obtain Ichthyosis is a hereditary skin condition affecting Golden Retrievers that is caused by a genetic mutation. Accessibility Methods 7, 248249 (2010). The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. Clipboard, Search History, and several other advanced features are temporarily unavailable. 47, 19401949 (2006). performed the genetic and functional experiments for the dog studies. and I.H.. contributed to the writing of the manuscript. F 3001/FWF_/Austrian Science Fund FWF/Austria, F 3002/FWF_/Austrian Science Fund FWF/Austria, Z 136/FWF_/Austrian Science Fund FWF/Austria, J Med Genet. In golden retrievers, a hereditary nonepidermolytic retention ichthyosis was diagnosed and described for the first time in 2007 (refs. Unauthorized use of these marks is strictly prohibited. 8600 Rockville Pike We thank A. Fautrel and P. Bellaud, from the histopathology platform H2P2, IFR140 Biogenouest, (Rennes, France), M.D. 1 = Normal allele; 2 = Variant allele. Akiyama, M. et al. Nat. Genet. Zimmermann, R. et al. and S.P.) 42, 2123 (2010). Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. Biochim. Topical polyhydroxy acid treatment for autosomal recessive congenital 15, 313319 (2005). This form (ICH-2; severe) is characterized by severe flaking with large amounts of whitish to brown scales and secondary infections with Malassezia. 18, 382383 (2007). We are grateful to G. Queney (Antagene, Lyon, France) and P. Quignon, G. Rabut and E. Watrin (Institut de Gntique et Dveloppement de Rennes, France) for helpful discussions. Open Access Johansson, L.E. Thank you for visiting nature.com. The https:// ensures that you are connecting to the Characterization of the human patatin-like phospholipase family. CAS and transmitted securely. Keywords: Ichthyosis is a very rare skin condition in dogs that is the result of a genetic mutation. Bookshelf Catherine Andr or Judith Fischer. Before 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. Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a An official website of the United States government. Autosomal recessive congenital ichthyosis (ARCI) in golden retrievers is due to a PNPLA1 gene mutation, which plays a role in epidermal lipid organization and metabolism. Elias, P.M., Williams, M.L., Holleran, W.M., Jiang, Y.J. 129, 13191321 (2009). "It was not diagnosed then as ichthyosis," she says. Please enable it to take advantage of the complete set of features! PDF Golden Retriever PubMedGoogle Scholar. 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. 3800 Spruce Street - Philadelphia, PA 19104. Bookshelf Eur. 161, 265272 (2009). Part D Genomics Proteomics 3, 6777 (2008). Ichthyosis (golden retriever type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. Federal government websites often end in .gov or .mil. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in HHS Vulnerability Disclosure, Help Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. Dermatol. Care for cats, dogs & other companion animals, Related Terms: ARCI, Autosomal Recessive Congenital Ichthyosis, GR ICH1, ICH-A, Ichthyosis-A, ICT-A, PNPLA1, Sample Types: Cheek brushes/swabs or Fresh EDTA blood, View Sample Collection and Shipping Instructions. Protoc. 63, 607641 (2010). 43, 7278 (2011). & Geuze, H.J. Tamamoto-Mochizuki C, Banovic F, Bizikova P, Laprais A, Linder KE, Olivry T. Vet Dermatol. In two dogs, pre- and 30 day post-treatment, skin biopsies were obtained. Petak A, otari-Zuckermann IC, Hohteter M, Lemo N. Vet Sci. Genetic testing revealed a homozygotic insertion/deletion mutation in the gene PNPLA1. Careers. Epub 2016 May 30. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009. 2009 May;50(5):227-35. Internet Explorer). Open Access articles citing this article. 19, 120129 (2008). Autosomal recessive congenital ichthyosis, Nonepidermolytic ichthyosis, ARCI Ichthyosis (Golden Retriever Type 1) Ichthyosis (Golden Retriever Type 2) Nonepidermolytic ichthyosis, ICH2, NI Ichthyosis (Great Dane Type) Ichthyosis (Jack Russell Terrier Type) Would you like email updates of new search results? Vet. Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. J. PMID: 27237723 Large-scale identification of human genes implicated in epidermal barrier function. 5, 900910 (2004). and S.K. Autosomal Recessive Congenital Ichthyosis. Parents, offspring and relatives should also be tested. Clipboard, Search History, and several other advanced features are temporarily unavailable. 173, 13491360 (2008). 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. Weekly application of a topical essential oils and fatty acid product was then added. Canine Ichthyosis: What Can Genetic Testing Tell Us? The form (ICH-1; PNPL1) is characterized by flaky skin with small to large, whitish to brownish scales. Schweiger, M. et al. In the meantime, to ensure continued support, we are displaying the site without styles Nat. `aIt;|^)VU/sr>Zr1#&;a#|GL$ ++A;x[~C:KI[*Xf J. Pathol. The .gov means its official. DiGiovanna J J et al (2013) Systemic retinoids in the management of ichthyosis and related skin types. Am. Cell Metab. The site is secure. The condition often progresses to large patches of thickened, black, scaly skin. Am. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. 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. Histopathology showed diffuse, laminated-to-compact hyperkeratosis with a single small perinuclear vacuole in occasional stratum granulosum keratinocytes. Would you like email updates of new search results? J Dermatol Sci. 3800 Spruce Street - Philadelphia, PA 19104. Genet. Am. Canine Ichthyosis and Related Disorders of Cornification J. 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