Bethesda, MD 20894, Web Policies Science 326, 150153 (2009). Cell Biol. 2017;59(4):475-482. doi: 10.24953/turkjped.2017.04.017. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. 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. "The veterinar - ian suggested it was 'walking dandruff,' Cadieu, E. et al. The long-term combination of oral fatty acids and topical therapy appeared to be beneficial in this case. 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. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Kienesberger, P.C., Oberer, M., Lass, A. Russell, L.J. Protoc. E?bB_1iP3b 7:LMRvvgO( ^g. This site needs JavaScript to work properly. 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. Vet. There are two forms of Ichthyosis in the Golden Retriever. Am. The clinical and histopathological findings indicate that treatment with oral isotretinoin was effective in improving ichthyosis without any side-effects. Genet. 161, 265272 (2009). Johansson, L.E. and F.G. designed the genetic aspects of the dog experiments. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. An official website of the United States government. The temporal discontinuation of topical therapy resulted in the worsening of scaling, which improved again after resuming this combination. Is "milk crust" a transient form of golden retriever ichthyosis? Google Scholar. 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. 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. Before Milder forms are manageable with baths and mineral oil. Would you like email updates of new search results? Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. Autosomal Recessive Congenital Ichthyosis. FOIA Genet. We do not provide kits. Med. Am. Slot, J.W. Neuronal ceroid lipofuscinosis results from the accumulation of granules in the neurons of the brain and spinal cord. Mol. 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. Supplementary Note, Supplementary Tables 15 and Supplementary Figures 14 (PDF 6871 kb), Grall, A., Guagure, E., Planchais, S. et al. Genet. Sci. Disclaimer. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. The extent and size of the scales were reduced by 60% and 75% after 14 and 30 days of treatment, respectively (P < 0.001). Ichthyosis (golden retriever type) is an inherited condition of the skin affecting golden retrievers. Ichthyosis in Golden Retrievers Ichthyosis as genodermatosis is best known in Golden The condition often progresses to large patches of thickened, black, scaly skin. Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. Scale as a clinical sign in puppies may be associated with myriad causes including nutrition, allergies, parasites and infection. 46, 24772487 (2005). The scales range in size from small to large, and vary in color from white to grey. Akiyama, M. et al. Sensory ataxic neuropathy is a progressive neurological disorder characterized by involuntary muscle movements and abnormal posture resulting from degeneration of the nerves controlling muscle movement. Parents, offspring and relatives should also be tested. Google Scholar. doi: 10.1371/journal.pgen.1010651. Methods: Affected: Affected dogs have two copies of the mutant gene and will develop ichthyosis type 2. All rights reserved. Probably the most common canine ichthyosis is an autosomal recessive ichthyosis in Golden Retrievers (OMIA 001588-9615). The https:// ensures that you are connecting to the Mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation. 153, 5158 (2005). et al. Correspondence to Genet. Physiol. 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. Cell Metab. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. 8600 Rockville Pike MeSH Catherine Andr and Judith Fischer: These authors jointly directed this work. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. Dog star rising: the canine genetic system. Genet. You are using a browser version with limited support for CSS. E. Bourrat provided patient material and data. DiGiovanna J J et al (2013) Systemic retinoids in the management of ichthyosis and related skin types. J. Dermatol. Please enable it to take advantage of the complete set of features! performed the genetic and functional experiments for the dog studies. J. Akiyama, M. et al. Post-treatment biopsies showed normalization of the stratum corneum morphology and reduced hyperpigmentation. FOIA 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 . Muscle Nerve 36, 856859 (2007). Sci. government site. formation of the corneocyte core) [5, 11, 24]. Unauthorized use of these marks is strictly prohibited. -, 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. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. 2, 24802491 (2007). HHS Vulnerability Disclosure, Help 15, 313319 (2005). In Torres SMF, Fran LA, Hargis AM. Chem. Final Thoughts. Its name comes from "ichthys," the Greek word for fish, because the rash is similar in appearance to fish scales. Guaguere E, Thomas A, Grall, A, Bourrat E, Lagoutte L, Degorce-Rubiales F, Hitte C, Bensignor E, Fontaine J, Pin D, Queney G, Andre C. Autosomal recessive ichthyosis in golden retriever dogs: distribution and frequency of the PNPLA1 mutant allele in different populations. Would you like email updates of new search results? The condition often progresses to large patches of thickened, black, scaly skin. 40, 14611465 (2008). & Zhao, Y. PLA2G6 mutations and Parkinson's disease. Comp. Article Genet. et al. The condition often progresses to large patches of thickened, black, scaly skin. contracts here. 3, 309319 (2006). 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. 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). 1 = Normal allele; 2 = Variant allele. ichthyosis was described in the Norfolk terrier and sporad-ically occurs in other dogs, e.g., Rhodesian Ridgeback or Labrador cross. Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. and JavaScript. Authors Chie Tamamoto-Mochizuki 1 , Frane Banovic 1 2 , Petra Bizikova 1 2 , Aurore Laprais 1 , Keith E Linder 2 3 , Thierry Olivry 1 2 Affiliations Progressive retinal atrophy rod-cone degeneration 4 (rcd4-PRA) is a heritable condition characterized by late-onset degeneration of photoreceptor cells in the retina, leading to loss of vision and blindness. GeneReviews. et al. and transmitted securely. Before Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorze 2009. government site. Google Scholar. This mutation prevents the outer layer of the skin from developing properly, which causes the skin to scale and flake. Because some affected dogs exhibit very mild symptoms, genetic testing should be performed before breeding. No other skin lesions or pruritus were observed in any dog. Copyright The Regents of the University of California, Davis campus. PMC 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. Nat Genet. 18, 382383 (2007). Parmentier, L. et al. Genet. 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. & Casal, M.L. 86, 657673 (2007). Make a Gift to the UC Davis School of Veterinary Medicine, School of Veterinary Medicine - Social Media Hub, VIPERFacultyAlumniFuture Veterinary Medical CenterCampus Directory. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. ISSN 1546-1718 (online) Dermatol. Am. J. Lipid Res. 39, 13211328 (2007). Andr C, Grall A, Guaguere , Thomas A, Galibert F. Bull Acad Natl Med. Oji, V. et al. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. `aIt;|^)VU/sr>Zr1#&;a#|GL$ ++A;x[~C:KI[*Xf Bookshelf Wilson, P.A., Gardner, S.D., Lambie, N.M., Commans, S.A. & Crowther, D.J. Dermatol. Golden retrievers that are not carriers of the mutation have no increased risk of having affected pups. Sixteen golden retriever dogs with clinical signs of ARCI and PCR-confirmed PNPLA1 gene mutation. doi: 10.1038/ng.1056. CAS Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. There are two forms of Ichthyosis in the Golden Retriever. et al. Accessibility 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. A skin biopsy is needed to definitely diagnose the condition, as it can be difficult to distinguish ichthyosis from many other skin diseases. Med. ), S63S68 (2009). the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in 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. Exp. Genet. There are two forms of Ichthyosis in the Golden Retriever. Life Expectancy Depends on the severity Mode of Inheritance Autosomal recessive Pathology The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Congenital myasthenic syndrome is a group of inherited neuromuscular disorders that are characterized by progressive muscle weakening that worsens with exercise. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). A.T. provided 400 dog DNA samples and performed validation of the mutation in dogs. and transmitted securely. Bethesda, MD 20894, Web Policies J. Hum. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). It affects both sexes but is only inherited maternally. Nat. Yamaguchi, T. & Osumi, T. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. 1 = Normal allele; 2 = Variant allele. Sensory ataxic neuropathy is a progressive neurological disorder characterized by involuntary muscle movements and abnormal posture resulting from degeneration of the nerves controlling muscle movement. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Mauldin, E.A., Credille, K.M., Dunstan, R.W. Genet. 2022 Aug 15;9(8):433. doi: 10.3390/vetsci9080433. At least 15 business days; may be delayed beyond 15 business days if sample requires additional testing, or a new sample is requested. Genome Biol. This progressive neurological disorder manifests as behavioral changes coupled with a loss of coordination and blindness. J. Lipid Res. 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. Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. Molecular Genetics and Genomics Please enable it to take advantage of the complete set of features! This site needs JavaScript to work properly. A.G., S.P., C.H., M.L.G., L.L. Article Science 267, 525528 (1995). 47, 19401949 (2006). 2013 Jun;197(6):1225-30. Am. performed light and electron microscopy as well as immunoelectron microscopy investigations. & Ostrander, E.A. 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. Genet. Nat Genet 44, 140147 (2012). (a) In these dogs, generalized scaling, with white or blackish scales, and large ichthyosiform adherent scales are. The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. PMID: 19413748. Lefvre, C. et al. 2019 May;5(2):112-117. doi: 10.1002/vms3.149. et al. Ziblat, R., Leiserowitz, L. & Addadi, L. Crystalline domain structure and cholesterol crystal nucleation in single hydrated DPPC:cholesterol:POPC bilayers. Rainier, S. et al. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. Daily oral fatty acid supplementation and humectant rinse, following weekly moisturizing shampoo, resulted in only mild improvement after two months. Metab. PMC Efficient mapping of mendelian traits in dogs through genome-wide association. Mauldin, E.A., Credille, K.M., Dunstan, R.W. Clinical signs included a mild to moderate or severe scaling. Clinical response to isotretinoin therapy, Clinical response to isotretinoin therapy in a golden retriever dog with autosomal recessive, Histopathological changes in skin biopsies, Histopathological changes in skin biopsies in a golden retriever with autosomal recessive congenital, MeSH doi: 10.1111/j.1748-5827.2009.00730.x. ]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> Affected skin is rough and covered with thick, greasy flakes that stick to the hair. The .gov means its official. Epub 2019 Feb 11. Rev. 173, 13491360 (2008). Would you like email updates of new search results? Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. Weekly application of a topical essential oils and fatty acid product was then added. PLoS ONE 4, e5327 (2009). PDF ABHD5 frameshift deletion in Golden Retrievers with ichthyosis S. Kiener, D. Wiener, HHS Vulnerability Disclosure, Help 63, 607641 (2010). Accessibility Milder forms are manageable with baths and mineral oil. Acad. 126, 20322038 (2006). J. and S.K. J. Med. and transmitted securely. The .gov means its official. Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. J. Heterozygous Carriers (1-2) are not expected to develop signs of Ichthyosis (ICH-1) but each of their offspring has a chance of inheriting a disease variant allele. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. Am. Objectives: In golden retriever dogs, autosomal recessive congenital ichthyosis (ARCI) has been associated with mutations in the PNPLA 1 gene. This form (ICH-2; severe) is characterized by severe flaking with large amounts of whitish to brown scales and secondary infections with Malassezia. This site needs JavaScript to work properly. Guaguere, E., Bensignor, E., Muller, A., Degorce-Rubiales, F. & Andre, C. Epidemiological, clinical, histopathological and ultrastructural aspects of ichthyosis in golden retrievers: a report of 50 cases. Dermatol. Golden Retrievers have a unique presentation of ichthyosis which seems to be more prevalent than other forms. doi: 10.1111/vde.12323. MeSH Life Expectancy Reliable genetic testing is important for determining breeding practices. A method and server for predicting damaging missense mutations. The Antagene laboratory has the international license for providing the ichthyosis DNA test in dogs. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. An official website of the United States government. J. Hum. 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. and I.H.. contributed to the writing of the manuscript. I.H. MeSH sharing sensitive information, make sure youre on a federal 50, 227235 (2009). Unauthorized use of these marks is strictly prohibited. 2015 Aug;26(4):265-e57. [Spontaneous models of human diseases in dogs: ichthyoses as an example]. Cornification defect in the golden retriever: clinical, histopathological, ultrastructural and genetic characterisation. and transmitted securely. 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. 8600 Rockville Pike 2009; OMIA 000546-9615). PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. Biophys. Conclusions and clinical importance: (Paris) 26, 177184 (2010). In 20% of the dogs, scaling was no longer observed after the first 30 days of treatment. 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. Ichthyosis is a hereditary skin condition affecting Golden Retrievers that is caused by a genetic mutation. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. 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. Andr C, Grall A, Guaguere , Thomas A, Galibert F. Bull Acad Natl Med. The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). & Zechner, R. Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. Neurodegeneration associated with genetic defects in phospholipase A(2). doi: 10.1016/j.jaad.2009.11.020. Pract. Though the exact frequency in the overall golden retriever population is unknown, approximately 44% out of 1600 golden retrievers tested from Australia, France, Switzerland, and the United States were carriers of the mutation and approximately 29% were affected. Weight loss and lethargy are associated with ICH-2. Ohkuma, A. et al. Ichthyosis Golden Retriever Care and Prevention 2022 Aug 25;36(13-14):822-42. doi: 10.1101/gad.349662.122. Dermatol. Br. have applied for an international patent (Catherine Andr et al., PCT/EP2010/067569) covering the use of the canine PNPLA1 mutation for the genetic screening of ichthyosis in dogs. Am. Adzhubei, I.A. 20 September 2021, Canine Medicine and Genetics Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. 43, 7278 (2011). 2008;45:174180. Please collect the sample following the sample collection and shipping instructions before ordering a test. Small Anim. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members. F.D.-R. did H&E staining for histological diagnosis and investigations in dogs. Federal government websites often end in .gov or .mil. The symptoms may progress to severe scaling all over the body, may improve with age, or may come and go over the dogs lifetime. Bookshelf 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. Dkmeci-Emre S, Takran ZE, Yzbaolu A, nal G, Akarsu AN, Karaduman A, zg M. Turk J Pediatr. Topical therapies are used to reduce scaling; however, there are few published efficacy studies. Vet. Invest. FOIA J Small Anim Pract. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Treatments were administered initially twice weekly for two weeks, then once weekly for two weeks and finally once monthly. J. The condition often progresses to large patches of thickened, black, scaly skin. doi: 10.1051/medsci/2010262177. Copyright The Regents of the University of California, Davis campus. Lake, A.C. et al. National Library of Medicine Nat. To examine the efficacy of topical treatment based on gluconolactone, a polyhydroxy acid with known beneficial effects on stratum corneum structure. Careers. Disord. 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. 1 = Normal allele; 2 = Variant allele. Progressive rod-cone degeneration (PRCD) is an inherited form of late-onset progressive retinal atrophy (PRA) that has been identified in many dog breeds. 129, 13191321 (2009). -, Guaguere E., Bensignor E., Kry S., Mller A., Herbin L., Fontaine J., Andre C., Degorce-Rubiales F. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: A prospective study. Congenital Ichthyosis Golden Retrievers treatment also includes healthy food high in fatty acid, less stress, enough sleep, and exercise. 19, 120129 (2008). Genetic variance in the adiponutrin gene family and childhood obesity. sharing sensitive information, make sure youre on a federal These are often not manageable with medications or baths. 7, 625632 (1999). Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. 49, 697714 (2008). The https:// ensures that you are connecting to the Petak A, otari-Zuckermann IC, Hohteter M, Lemo N. Vet Sci. 2012;44:140147. Genes Dev. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Carriers should only be bred to normal dogs in order not to produce affected dogs. Congenital ichthyosis is a skin condition in which the outer layer of the skin does not form properly and results in scaling. This site needs JavaScript to work properly. Background. 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. 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. 85, 248253 (2009). CAS doi: 10.1354/vp.45-2-174. Tamamoto-Mochizuki C, Banovic F, Bizikova P, Laprais A, Linder KE, Olivry T. Vet Dermatol. ISSN 1061-4036 (print). An official website of the United States government. Purcell, S. et al. Tamamoto-Mochizuki C, Banovic F, Bizikova P, Laprais A, Linder KE, Olivry T. Vet Dermatol. We thank A. Fautrel and P. Bellaud, from the histopathology platform H2P2, IFR140 Biogenouest, (Rennes, France), M.D. Two genetic variants have been associated with congenital ichthyosis in the Golden Retriever. 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. 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. Please enable it to take advantage of the complete set of features! Unable to load your collection due to an error, Unable to load your delegates due to an error. 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. J. 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. Ichthyoses are hereditary cornification disorders that manifest with abnormal differentiation and desquamation of keratinocytes in a form of generalized dry and scaly skin.

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