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BackgroundSince 2010, four Charolais calves with a congenital mechanobullous skin disorder that were born in the same herd from consanguineous matings were reported to us. Clinical and histopathological examination revealed lesions that are compatible with junctional epidermolysis bullosa (JEB).ResultsFifty-four extended regions of homozygosity (>1 Mb) were identified after analysing the whole-genome sequencing (WGS) data from the only case available for DNA sampling at the beginning of the study. Filtering of variants located in these regions for (i) homozygous polymorphisms observed in the WGS data from eight healthy Charolais animals and (ii) homozygous or heterozygous polymorphisms found in the genomes of 234 animals from different breeds did not reveal any deleterious candidate SNPs (single nucleotide polymorphisms) or small indels. Subsequent screening for structural variants in candidate genes located in the same regions identified a homozygous deletion that includes exons 17 to 23 of the integrin beta 4 (ITGB4), a gene that was previously associated with the same defect in humans. Genotyping of a second case and of six parents of affected calves (two sires and four dams) revealed a perfect association between this mutation and the assumed genotypes of the individuals. Mining of Illumina BovineSNP50 Beadchip genotyping data from 6870 Charolais cattle detected only 44 heterozygous animals for a 5.6-Mb haplotype around ITGB4 that was shared with the carriers of the mutation. Interestingly, none of the 16 animals genotyped for the deletion carried the mutation, which suggests a rather recent origin for the mutation.ConclusionsIn conclusion, we successfully identified the causative mutation for a very rare autosomal recessive mutation with only one case by exploiting the most recent DNA sequencing technologies.Electronic supplementary materialThe online version of this article (doi:10.1186/s12711-015-0110-z) contains supplementary material, which is available to authorized users.

Background -Otitis externa is associated with a lack of bacterial/fungal diversity in atopic dermatitis. Clinical experience has shown that use of topical corticosteroids in the ear canal (EC) can prevent otitis. No data are available on the impact of this treatment on the EC microbiota.Hypothesis/objectives -To observe the bacterial/fungal diversity in the EC and the clinical effect of topical corticosteroids administered over a four week period in atopic dogs without active otitis. Animals -Ten atopic dogs without active otitis.Methods and materials -Mometasone was applied in the right EC, while the left was used as control. A clinical and cytological evaluation of the EC was performed. Swabs of each EC were analysed using next-generation sequencing methods.Results -At the beginning of the trial, variations in microbiota and mycobiota were observed between dogs and also within individuals. Statistically, no significant difference was observed in alpha and beta diversity between the treated and the untreated group over time. Clinically, right and left EC diversities were no different at Day (D) 28 (P = 0.28). A significant difference was noted between D0 and D28 for the treated ears (P = 0.012) and not for the untreated ears (P = 0.63). No cytological evidence of microbes was found for treated ECs at D28.Conclusions and clinical relevance -These data suggest that the use of topical corticosteroids as proactive treatment is unlikely to increase the risk of secondary microbial overgrowth. The positive clinical effect of this proactive treatment seems to be supported through cytological and otoscopic improvement.