Abstract
BackgroundEpidermolysis bullosa (EB) is a hereditary heterogeneous group of mechanobullous disorders caused by mutations in several structural skin proteins observed in both humans and animals. In this work, we report the incidence and the genetic trend of the junctional epidermolysis bullosa (JEB), a major type of EB, in the Italian German Shorthaired Pointer (GSPs) population in a 10 years span.MethodsIn this study, we monitored the genetic trend of JEB in the Italian population of the GSPs from 2009 to 2018 in 750 animals. The studied mutation was the insertion (4818+207 ins 6.5 kb) of repetitive satellite DNA within intron 35 of the LAMA3 gene.ResultsAllele frequencies showed a reduction of the mutated (C) allele during the years, with the only exception of 2017, when 13 dogs were diagnosed as carrier for the genetic pathology. A regression logistic analysis was performed, including sex, coat colour and their interaction. Our results showed that there was a statistically significant association with coat colour.ConclusionsThe simplicity and the low cost of the analysis for the detection of this pathology suggests that a deeper identification of carrier dogs will allow better breeding strategies and management, leading to a rapid JEB eradication.
Highlights
Epidermolysis bullosa (EB) is a hereditary heterogeneous group of mechanobullous disorders caused by mutations in several structural skin proteins observed in both humans and animals.[1]
Four major types of EB are currently known, according to their different level of blisters and the location of the aberrant proteins involved: EB simplex (EBS) where detachment occurs in the basal layer of the epidermis; dystrophic EB (DEB) in which defects are due to a deficit of type VII collagen, a major component in the skin basement membrane; Kindler syndrome, characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity; and junctional EB (JEB) in the lamina lucida of the dermoepidermal basement membrane.[3]
We monitored the genetic trend of junctional epidermolysis bullosa (JEB) in the Italian population of the German Shorthaired Pointers (GSPs) in a period of 10 years (2009– 2018)
Summary
Epidermolysis bullosa (EB) is a hereditary heterogeneous group of mechanobullous disorders caused by mutations in several structural skin proteins observed in both humans and animals.[1] EB is characterized by dermoepidermal separation, producing various degrees of skin blistering and shearing that impair the life of EB-affected individuals.[2] Four major types of EB are currently known, according to their different level of blisters and the location of the aberrant proteins involved: EB simplex (EBS) where detachment occurs in the basal layer of the epidermis; dystrophic EB (DEB) in which defects are due to a deficit of type VII collagen, a major component in the skin basement membrane; Kindler syndrome, characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity; and junctional EB (JEB) in the lamina lucida of the dermoepidermal basement membrane.[3]. Conclusions: The simplicity and the low cost of the analysis for the detection of this pathology suggests that a deeper identification of carrier dogs will allow better breeding strategies and management, leading to a rapid JEB eradication
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