Clinical examination, blood analysis and histopathological examinations were conducted before and after 90 days of isotretinoin therapy. 2009 Aug 21;325(5943):995-8 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. Ichthyosis (golden retriever type) is an inherited condition of the skin affecting golden retrievers. Affected skin is rough and covered with thick, greasy flakes that stick to the hair. Before Golden retrievers that are not carriers of the mutation have no increased risk of having affected pups. Gregory, A. et al. Biochem. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. & Geuze, H.J. MeSH Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. The temporal discontinuation of topical therapy resulted in the worsening of scaling, which improved again after resuming this combination. Clipboard, Search History, and several other advanced features are temporarily unavailable. Akiyama, M. et al. Genet. -, Br J Dermatol. J Dermatol Sci. This is a preview of subscription content, access via your institution. 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. PNPLA1 and NM_001290109.1:c.1445_1447delinsTACTACTA. Nat. 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. 8, R107 (2007). 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. The clinical and histopathological findings indicate that treatment with oral isotretinoin was effective in improving ichthyosis without any side-effects. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Ichthyosis (Golden Retriever Type) - Animal Genetics -, Grall A., Guaguere E., Planchais S., Grond S., Bourrat E., Hausser I., Hitte C., Le Gallo M., Derbois C., Kim G.-J., et al. Vet Sci. Genet. J. 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).
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