official website and that any information you provide is encrypted An official website of the United States government. Akiyama, M. et al. Mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. 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. At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested. 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. 2022 Jul 26;12(8):685. doi: 10.3390/metabo12080685. Ichthyosis (Golden Retriever Type 1) 88, 482487 (2011). Neuronal ceroid lipofuscinosis results from the accumulation of granules in the neurons of the brain and spinal cord. 2009 May;50(5):227-35. doi: 10.1111/j.1748-5827.2009.00730.x. 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. Bethesda, MD 20894, Web Policies 2012 Jan 15;44(2):140-7. Chem. An official website of the United States government. The condition often progresses to large patches of thickened, black, scaly skin. Nat. J. Pathol. Grall A et al (2012) PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. contracts here. Unauthorized use of these marks is strictly prohibited. To obtain Weight loss and lethargy are associated with ICH-2. 67, 148 (2010). Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. 1 = Normal allele; 2 = Variant allele. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). 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. Ichthyosis (ICH-1) Parents, offspring and relatives should also be tested. Its name comes from "ichthys," the Greek word for fish, because the rash is similar in appearance to fish scales. Karlsson, E.K. Mubaidin, A. et al. -, Mauldin E.A., Credille K., Dunstan R.W., Casal M.L. A genome-wide association study of 40 dogs identified a causative mutation in PNPLA1, a previously uncharacterised protein, and showed that it is present in the upper epidermis and suggest that it functions in epidermal glycerophospholipid metabolism. Eur. et al. Med. 50, 227235 (2009). Dogs were treated with a shampoo and lotion containing gluconolactone and other hydroxyl acids. The https:// ensures that you are connecting to the https://doi.org/10.1038/ng.1056. We thank A. Fautrel and P. Bellaud, from the histopathology platform H2P2, IFR140 Biogenouest, (Rennes, France), M.D. Nat. Disclaimer. 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. Dermatol. 2003 Jul;40(7):543-6 Comp. 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. The site is secure. Ichthyosis Golden Retriever Care and Prevention In the meantime, to ensure continued support, we are displaying the site without styles Please enable it to take advantage of the complete set of features! The .gov means its official. PNPLA 1; autosomal recessive congenital ichthyosis; golden retriever; ichthyosis; isotretinoin. The age of onset and severity of disease are highly variable, however most affected dogs present before one year of age with flaky skin and dull hair. Nat. The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. PDF ABHD5 frameshift deletion in Golden Retrievers with ichthyosis S. Kiener, D. Wiener, There are two forms of Ichthyosis in the Golden Retriever. 18, 671674 (2008). 50 (suppl. Examinations were performed prior to and at 14 and 30 days of treatment to assess scaling, presence of other skin lesions and pruritus. The form (ICH-1; PNPL1) is characterized by flaky skin with small to large, whitish to brownish scales. Metab. 7, 625632 (1999). Provided by the Springer Nature SharedIt content-sharing initiative, Nature Genetics (Nat Genet) 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. 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. Biochem. The authors declare no conflict of interest. -, PLoS One. The symptoms may progress to severe scaling all over the body, may improve with age, or may come and go over the dogs lifetime. J. Hum. Biophys. 85, 248253 (2009). Homozygous Affecteds (2-2) are expected to develop signs consistent with Ichthyosis (ICH-1) and all of their offspring will inherit a disease variant allele. Background. J. Hum. See this image and copyright information in PMC. Eur. J. Lipid Res. 2009;50:227235. 1 = Normal allele; 2 = Variant allele. It causes flaking of the skin, because the outermost layer of skin does not develop normally. Genes Dev. PubMed Central Tian, C., Stokowski, R.P., Kershenobich, D., Ballinger, D.G. Science 326, 150153 (2009). -, Science. 2022 Aug 15;9(8):433. doi: 10.3390/vetsci9080433. MeSH Federal government websites often end in .gov or .mil. The .gov means its official. These are essential in developing a strong immune system that can help Golden Retrievers fight skin infections and other possible complications. and transmitted securely. sharing sensitive information, make sure youre on a federal Muscle Nerve 36, 856859 (2007). Catherine Andr or Judith Fischer. The condition often progresses to large patches of thickened, black, scaly skin. The condition often progresses to large patches of thickened, black, scaly skin. In this report we describe the beneficial effect of oral and topical fatty acids for management of a golden retriever and poodle cross-bred dog (goldendoodle) with ARCI due to a PNPLA1 (Patatin-like phospholipase domain containing 1) mutation. Soc. Canine Ichthyosis and Related Disorders of Cornification This site needs JavaScript to work properly. In general, carrier dogs do not have features of the disease but when bred with another carrier of the sameMutation, there is a risk of having affected pups. Small Anim. 81, 559575 (2007). FOIA Google Scholar. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. Golden Retriever | Veterinary Genetics Laboratory Neurodegeneration associated with genetic defects in phospholipase A(2). We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. 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. More than one form of PRA affects Golden Retrievers, and causal mutations in three distinct genes have been identified; two of those mutations lead to PRA1 and PRA2. The condition often progresses to large patches of thickened, black, scaly skin. Unauthorized use of these marks is strictly prohibited. A.G., S.P., C.H., M.L.G., L.L. Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. Ichthyosis is a very rare skin condition in dogs that is the result of a genetic mutation. This is a preview of subscription content, access via your institution. Carriers should only be bred to normal dogs in order not to produce affected dogs. Introduction There are many skin disorders that are recognized in puppies, with a variety of etiologies. Am. Metabolites. J. Dermatol. Bookshelf Genet. Panel can be purchased on MyVGL. Please enable it to take advantage of the complete set of features! The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. 86, 657673 (2007). Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the PNPLA1 gene mutation. Ichthyosis in Golden Retrievers - Definition, Causes, Signs & Treatment C.A., A.G., J. Fischer, F.G., C.H., M.L. Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. 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. doi: 10.1038/ng.1056. Make a Gift to the UC Davis School of Veterinary Medicine, School of Veterinary Medicine - Social Media Hub, VIPERFacultyAlumniFuture Veterinary Medical CenterCampus Directory. 47, 19401949 (2006). Genet. The aim of this study was to investigate the clinical and histological effects of isotretinoin on ARCI in a golden retriever dog with confirmed mutation in the PNPLA 1 gene. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in 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) 39, 13211328 (2007). Am. PLoS ONE 4, e5327 (2009). The site is secure. Careers. J. Dermatol. Akiyama, M. et al. Huber, M. et al. Clinical, histopathological and ultrastructural analysis of golden retriever ichthyosis. Ichthyosis is a hereditary skin condition affecting Golden Retrievers that is caused by a genetic mutation. 2016 Aug;27(4):306-e75. The Clinical and Morphologic Features of Nonepidermolytic Ichthyosis in the Golden Retriever. An official website of the United States government. The Golden Retriever Health Panel includes the following new, breed-specific tests: Congenital Ichthyosis A skin condition in which the outer layer of the skin does not form properly and results in scaling . et al. Nat. Guaguere, E. et al. Please enable it to take advantage of the complete set of features! In human medicine, isotretinoin is frequently used to treat ARCIs. Protoc. FOIA 1 = Normal allele; 2 = Variant allele. Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. 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 . We thank A.S. Lequarr, an excellent coordinator for the European FP7 LUPA project, A. Boland and D. Zelenika for the genotyping performed at CNG (Evry, France); dermatologists, especially F. Caux, and Gnthon, for patient DNA processing; J. Abadie (AMaROC research unit, Oniris, Ecole Nationale Vtrinaire de Nantes, France) and practitioners T. Bord, X. Langon, P. Prelaud, M.D. Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. 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. 39, 2830 (2007). 02 October 2021, Canine Medicine and Genetics 2017 May 15;26(10):1787-1800. doi: 10.1093/hmg/ddx079. doi: 10.1051/medsci/2010262177. Galibert, F. & Andre, C. The dog: a powerful model for studying genotype-phenotype relationships. Google Scholar. & Geuze, H.J. Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. Hitomi, K. Transglutaminases in skin epidermis. Bookshelf Epub 2019 Feb 11. 123, 1322 (2004). Unable to load your collection due to an error, Unable to load your delegates due to an error. 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. Homozygous Normals (1-1) are not expected to develop signs of Ichthyosis (ICH-1) and none of their offspring will inherit the disease variant allele. Affected: Affected dogs have two copies of the mutant gene and will develop ichthyosis type 2. doi: 10.1111/vde.12323. J. Hum. Skin: ichthyosis in dogs | Vetlexicon Canis from Vetlexicon An official website of the United States government. Dermatol. Golden Retriever Health Panel | Veterinary Genetics Laboratory Open Access 1 = Normal allele; 2 = Variant allele. 1 = Normal allele; 2 = Variant allele. Homozygous Normals (1-1) are not expected to develop signs of Ichthyosis (ICH-2) and none of their offspring will inherit the disease variant allele. 45, 174180 (2008). PMC PMID: 22246504. Ichthyosis in Golden Retrievers Ichthyosis as genodermatosis is best known in Golden Br. 161, 265272 (2009). Finally, we warmly thank S. Cure from Genoscope (Evry, France) for her several careful readings and English corrections and her kind availability, as well as D. Morris-Rosendahl (Institute for Human Genetics, Freiburg, Germany). More recently, the clinical, epidemiological. Federal government websites often end in .gov or .mil. Neurol. Scale as a clinical sign in puppies may be associated with myriad causes including nutrition, allergies, parasites and infection. 2009;4(4):e5327 The defects arise in the formation step of keratin formation (i.e. Golden Retriever ichthyosis This form of canine ichthyosis is generally considered "mild," although severity can be dog-dependent. performed the genetic and functional experiments for the dog studies. The mutation prevents the outer layer of skin from developing properly. Wilson, P.A., Gardner, S.D., Lambie, N.M., Commans, S.A. & Crowther, D.J. Sign up for the Nature Briefing newsletter what matters in science, free to your inbox daily. ISSN 1061-4036 (print). Before 2009 Apr;50 Suppl:S63-8 Epub 2016 May 30. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. Dermatol. 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. sharing sensitive information, make sure youre on a federal Laiho, E. et al. the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Oji V., Tadini G., Akiyama M., Bardon C.B., Bodemer C., Bourrat E., Coudiere P., DiGiovanna J.J., Elias P., Fischer J., et al. Carrier (heterozygote): Carriers have one normal and one ichthyosis type 2 mutant gene. The .gov means its official. Milder forms are manageable with baths and mineral oil. and F.G. designed the genetic aspects of the dog experiments. ), S63S68 (2009). Pictures on the left were obtained before and those on the right after 3 months of treatment at the same body locations but on the contralateral sides. Copyright The Regents of the University of California, Davis campus. No other skin lesions or pruritus were observed in any dog. 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. doi: 10.1111/vde.12216. Nat. was supported by the NIRK Network (German BMBF 01GM0904). 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. Open Access Affected dogs develop a large, soft, whitish scale that is typically present on the trunk and may develop increased pigmentation of the ventrum (lower abdomen). Vet. Genetic variance in the adiponutrin gene family and childhood obesity. Science 267, 525528 (1995). and transmitted securely. doi: 10.1111/j.1748-5827.2009.00730.x. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Tamamoto-Mochizuki C, Banovic F, Bizikova P, Laprais A, Linder KE, Olivry T. Vet Dermatol. J. Vet. PubMedGoogle Scholar. Google Scholar. [Spontaneous models of human diseases in dogs: ichthyoses as an example]. Nat Genet. Puigdemont A, Furiani N, De Lucia M, Carrasco I, Ordeix L, Fondevila D, Rami-Lluch L, Brazis P. Vet Dermatol. doi: 10.1354/vp.45-2-174. There are two forms of Ichthyosis in the Golden Retriever. Oji, V. et al. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). (PDF) Congenital Ichthyosis in 14 Great Dane Puppies - ResearchGate This panel bundles together several genetic tests relevant to Golden Retriever health. government site. The clinical and histopathological findings indicate that treatment with oral isotretinoin was effective in improving ichthyosis without any side-effects. 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. Degenerative myelopathy (DM) is an inherited neurologic disorder of dogs characterized by gradual muscle wasting and loss of coordination typically beginning in the hind limbs. 5, 900910 (2004). Article The .gov means its official. Ichthyoses are hereditary cornification disorders that manifest with abnormal differentiation and desquamation of keratinocytes in a form of generalized dry and scaly skin. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Accessibility et al. 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. Ziblat, R., Leiserowitz, L. & Addadi, L. Crystalline domain structure and cholesterol crystal nucleation in single hydrated DPPC:cholesterol:POPC bilayers. Ichthyosis (golden retriever type) is an inherited condition of the skin affecting golden retrievers. The site is secure. PLINK: a tool set for whole-genome association and population-based linkage analyses. 46, 24772487 (2005). Pathol. KLF5 governs sphingolipid metabolism and barrier function of the skin. Topical polyhydroxy acid treatment for autosomal recessive congenital Cell Biol. 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. Bookshelf Unable to load your collection due to an error, Unable to load your delegates due to an error, Clinical response to isotretinoin therapy in a golden retriever dog with autosomal recessive congenital ichthyosis (ARCI). Article J. Lipid Res. J. Lipid Res. Epub 2015 Apr 30. 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. Nat Genet 44 (2), 140-147 PubMed. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Merveille, A.C. et al. `aIt;|^)VU/sr>Zr1#&;a#|GL$ ++A;x[~C:KI[*Xf Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. Genet. Objectives: official website and that any information you provide is encrypted Epub 2016 May 30. This progressive neurological disorder manifests as behavioral changes coupled with a loss of coordination and blindness. Lass, A. et al. ISSN 1546-1718 (online) PubMed Topical therapies are used to reduce scaling; however, there are few published efficacy studies. J. Fischer designed the human genetic analyses and supervised the functional studies on humans. 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. Genet. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. National Library of Medicine Disclaimer. J. PMC A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Petak A, otari-Zuckermann IC, Hohteter M, Lemo N. Vet Sci. 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. This site needs JavaScript to work properly. PDF Golden Retriever 43, 7278 (2011). Probably the most common canine ichthyosis is an autosomal recessive ichthyosis in Golden Retrievers (OMIA 001588-9615). & Zhao, Y. PLA2G6 mutations and Parkinson's disease. MeSH 2016 Aug;27(4):306-e75. Br. ichthyosis was described in the Norfolk terrier and sporad-ically occurs in other dogs, e.g., Rhodesian Ridgeback or Labrador cross. Gregory, A. et al. Zimmermann, R., Lass, A., Haemmerle, G. & Zechner, R. Fate of fat: the role of adipose triglyceride lipase in lipolysis. Internet Explorer). Ichthyosis (golden retriever type) is an inherited condition of the skin affecting golden retrievers. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009. 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. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. 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. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. doi: 10.1111/vde.12323. & Ostrander, E.A. Case report: Neuromuscul. [Spontaneous models of human diseases in dogs: ichthyoses as an example]. Klar, J. et al. Slot, J.W. Elias, P.M., Williams, M.L., Holleran, W.M., Jiang, Y.J. CNRS and Universit Rennes 1 (including C.A., E.G. Get the most important science stories of the day, free in your inbox. F.D.-R. did H&E staining for histological diagnosis and investigations in dogs. Order Test Correspondence to 2010;63:607641. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. and transmitted securely. Genet. sharing sensitive information, make sure youre on a federal 2022 Aug 25;36(13-14):822-42. doi: 10.1101/gad.349662.122. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Genet. Weight loss and lethargy are associated with ICH-2. 8600 Rockville Pike Careers. This progressive neurological disorder manifests as behavioral changes coupled with a loss of coordination and blindness. Genet. Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. 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). J. Lipid Res. FOIA Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in Cadieu, E. et al. Before C.D. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. This study was supported by CNRS, the European Commission (FP7-LUPA, GA-201370). Pract. J. Before Dermatol. The Mutation of the PNPLA1 gene associated with Ichthyosis (golden retriever type) has been identified in the golden retriever. Copyright The Regents of the University of California, Davis campus. Invest. In Golden Retrievers lamellar ichthyosis was shown to be associated with a mutant PNPLA1 (patatin-like phospholipase domain containing 1) which was supposed to harbor potential causative. 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. et al. Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. John Wiley & Sons Ltd, 2013. Golden retrievers that are not carriers of the mutation have no increased risk of having affected pups. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in Does Paw Print Genetics do Ichthyosis Testing?
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