PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. 18, 382383 (2007). Nat Genet 44 (2), 140-147 PubMed. Coat variation in the domestic dog is governed by variants in three genes. DiGiovanna J J et al (2013) Systemic retinoids in the management of ichthyosis and related skin types. Vet Sci. These are essential in developing a strong immune system that can help Golden Retrievers fight skin infections and other possible complications. While the prognosis is generally good for affected dogs, they are at increased risk for skin infections. 2009; OMIA 000546-9615). Sixteen golden retriever dogs with clinical signs of ARCI and PCR-confirmed PNPLA1 gene mutation. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. 2012;44:140147. 8600 Rockville Pike Progressive retinal atrophy (PRA) is characterized by bilateral degeneration of the retina resulting in progressive vision loss leading to total blindness. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Care for cats, dogs & other companion animals, Related Terms: ARCI, Autosomal Recessive Congenital Ichthyosis, GR ICH2, Sample Types: Cheek brushes/swabs or Fresh EDTA blood, View Sample Collection and Shipping Instructions. Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. HHS Vulnerability Disclosure, Help Chem. This panel bundles together several genetic tests relevant to Golden Retriever health. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. Provided by the Springer Nature SharedIt content-sharing initiative, Nature Genetics (Nat Genet) 2022 Aug 15;9(8):433. doi: 10.3390/vetsci9080433. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. & Schmuth, M. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. 123, 1322 (2004). To the best of the authors' knowledge, this is the first case report of ARCI with homozygous PNPLA1 mutation in a golden retriever-poodle cross-bred dog. Unable to load your collection due to an error, Unable to load your delegates due to an error. 2013 Jun;197(6):1225-30. Andr C, Grall A, Guaguere , Thomas A, Galibert F. Bull Acad Natl Med. `aIt;|^)VU/sr>Zr1#&;a#|GL$ ++A;x[~C:KI[*Xf It affects both sexes but is only inherited maternally. et al. See below for pricing and list of specific tests included in panel. J. Med. and transmitted securely. [Spontaneous models of human diseases in dogs: ichthyoses as an example]. In golden retriever dogs, autosomal recessive congenital ichthyosis (ARCI) has been associated with mutations in the PNPLA 1 gene. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. & Dunstan, R.W. National Library of Medicine Bethesda, MD 20894, Web Policies CAS The Antagene laboratory has the international license for providing the ichthyosis DNA test in dogs. The clinical and histopathological findings indicate that treatment with oral isotretinoin was effective in improving ichthyosis without any side-effects. Ichthyosis is an autosomal recessive disease occurring due to mutations in the PNPLA1 gene and can be seen as early as the first few weeks of life in affected animals (to be affected, dogs must carry two copies of the mutated gene, one from each parent). Cryosectioning and immunolabeling. 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. Dermatol. Bethesda, MD 20894, Web Policies Picture before (, Histopathological changes in skin biopsies in a golden retriever with autosomal recessive congenital ichthyosis (ARCI), before (. Biochim. HHS Vulnerability Disclosure, Help Lass, A. et al. Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Genet. Science 267, 525528 (1995). Although the clinical presentation, histopathological findings and genetic cause of autosomal recessive congenital ichthyosis (ARCI) in golden retriever dogs have been well investigated, the optimal management of this disease remains uncharacterized. Nat Genet. 50, 227235 (2009). Copyright 2013-2023 All Rights Reserved. This progressive neurological disorder manifests as behavioral changes coupled with a loss of coordination and blindness. Parents, offspring and relatives should also be tested. 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. Online ahead of print. Nat. Dermatol. Am. Ichthyosis in Golden Retrievers Ichthyosis as genodermatosis is best known in Golden 39, 13211328 (2007). Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epidermal cornification. 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 . 283, 1721117220 (2008). 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. Lake, A.C. et al. J. Lipid Res. contracts here. Google Scholar. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Accessibility Breiden, B., Gallala, H., Doering, T. & Sandhoff, K. Optimization of submerged keratinocyte cultures for the synthesis of barrier ceramides. The site is secure. Copyright The Regents of the University of California, Davis campus. In the meantime, to ensure continued support, we are displaying the site without styles & Zechner, R. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. 2022 Aug 25;36(13-14):822-42. doi: 10.1101/gad.349662.122. Topical therapies are used to reduce scaling; however, there are few published efficacy studies. Would you like email updates of new search results? Genet. Epub 2016 May 30. 2, 24802491 (2007). Weight loss and lethargy are associated with ICH-2. Soc. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Article MeSH Acad. This panel bundles together several genetic tests relevant to Golden Retriever health. the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in doi: 10.1111/vde.12323. doi: 10.1111/j.1748-5827.2009.00730.x. et al. ]E2E(L>7>5!-8+mL ln{)[lMe:jfr ]7S^]6a24e[g$wk8O~VH1EvIWn 1x P)dK8[]I;%{-$sR7xVa/]r 7E_=bSLcuqQ+Q-Io0FV= 9+?um5i !Jd1V%#&[:qIwzS0XDM,BtC3YVGbXy 0D'JhgIG($r6 \&{6)\#pEgmYt(=$'rxabWpa3,pc(aU:U7ysCU1s1NuDL BMbQL6> Centre National de la Recherche Scientifique (CNRS), Institut de Gntique et Dveloppement de Rennes, Rennes, France, Anas Grall,Sandrine Planchais,Christophe Hitte,Matthieu Le Gallo,Latitia Lagoutte,Sbastien Kry,Francis Galibert&Catherine Andr, Universit Rennes 1, Institut Fdratif de Recherche (IFR) 140, Facult de Mdecine, Rennes, France, Clinique Vtrinaire Saint Bernard, Lomme, France, Institute of Molecular Biosciences, Karl-Franzens-Universitt Graz, Graz, Austria, Susanne Grond,Franz P W Radner,Robert Zimmermann&Rudolf Zechner, Dpartement de Dermatologie, Hpital St. Louis, Paris, France, Department of Dermatology, University Clinic Heidelberg, Heidelberg, Germany, Electron Microscopy Core Facility University Heidelberg, Heidelberg, Germany, Institut de Gnomique, Centre National de Gnotypage (CNG), Commissariat l'Enrgie Atomique et aux Enrgies Alternatives (CEA), Evry, France, Cline Derbois,Mark Lathrop&Judith Fischer, Institute for Human Genetics, University Clinic Freiburg, Freiburg, Germany, Faculty for Biology, University of Freiburg, Freiburg, Germany, Laboratoire d'Anatomie Pathologique Vtrinaire du Sud-Ouest, Toulouse, France, Antagene, Animal Genetics Laboratory, Limonest, France, Centre Hospitalier Universitaire (CHU) Nantes, Service de Gntique Mdicale, Nantes, France, Clinique Vtrinaire de la Boulais, Cesson-Svign, France, Unit de Dermatologie, VetAgro Sup Campus Vtrinaire de Lyon, Marcy l'Etoile, France, Fondation Jean DaussetCentre d'Etude de Polymorphisme Humain (CEPH), Paris, France, Zentrum fr Biosystemanalyse, Universitt Freiburg, Freiburg, Germany, You can also search for this author in 2015 Aug;26(4):265-e57. This study was supported by CNRS, the European Commission (FP7-LUPA, GA-201370). We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. It causes flaking of the skin, because the outermost layer of skin does not develop normally. Mol. Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. and JavaScript. Ichthyoses are hereditary cornification disorders that manifest with abnormal differentiation and desquamation of keratinocytes in a form of generalized dry and scaly skin. 132, 99209927 (2010). J Small Anim Pract. FOIA Br. Golden retrievers are particularly susceptible to a skin condition known as congenital ichthyosis, which causes the growth of scaly skin on a dog's abdomen. doi: 10.1051/medsci/2010262177. Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Topical therapies are used to reduce scaling; however, there are few published efficacy studies. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Karlsson, E.K. J. Hum. 42, 2123 (2010). Akiyama, M. et al. Thirteen months after the initial presentation the dog exhibited a marked improvement in clinical signs. Epub 2016 May 30. The Veterinary Genetics Laboratory (VGL), in collaboration with Dr. Niels C. Pedersen and staff, has developed a panel of short tandem repeat (STR) markers that will determine genetic diversity across the genome and in the Dog Leukocyte Antigen (DLA) class I and II regions. 86, 657673 (2007). Nat. This was a prospective, multicentre, noncontrolled study. & Geuze, H.J. This is a preview of subscription content, access via your institution. Genet. -, Grall A., Guaguere E., Planchais S., Grond S., Bourrat E., Hausser I., Hitte C., Le Gallo M., Derbois C., Kim G.-J., et al. The form (ICH-1; PNPL1) is characterized by flaky skin with small to large, whitish to brownish scales. Unauthorized use of these marks is strictly prohibited. Nat. 2009;4(4):e5327 Careers. Careers. volume44,pages 140147 (2012)Cite this article. 81, 559575 (2007). The condition often progresses to large patches of thickened, black, scaly skin. 2018 May 22. doi: 10.1111/vde.12654. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. Nat. 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. Neurol. Donner J, Freyer J, Davison S, Anderson H, Blades M, Honkanen L, Inman L, Brookhart-Knox CA, Louviere A, Forman OP, Chodroff Foran R. PLoS Genet. [Spontaneous models of human diseases in dogs: ichthyoses as an example]. Baulande, S. & Langlois, C. Proteins sharing PNPLA domain, a new family of enzymes regulating lipid metabolism. 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. and transmitted securely. Daily oral fatty acid supplementation and humectant rinse, following weekly moisturizing shampoo, resulted in only mild improvement after two months. Dogs were treated with a shampoo and lotion containing gluconolactone and other hydroxyl acids. Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study Authors Anna Puigdemont 1 , Nicla Furiani 2 , Michela De Lucia 3 , Isaac Carrasco 4 , Laura Ordeix 5 , Dolors Fondevila 5 , Laura Rami-Lluch 6 , Pilar Brazis 6 Affiliations ISSN 1061-4036 (print). J. Lipid Res. Metabolites. Accessibility Mauldin, E.A., Credille, K.M., Dunstan, R.W. PMC Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

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