Genetic analysis of a possible case of canine X-linked ectodermal dysplasia |
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| Authors: | E Moura S R T Daltro D M Sás J R Engracia Filho M R Farias C T Pimpão |
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| Institution: | 1. Service of Medical Genetics, Course of Veterinary Medicine, School of Life Sciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil;2. Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, Bahia, Brazil;3. Genotyping – Diagnósticos Genéticos, Botucatu, São Paulo, Brazil;4. Graduate Program in Animal Science, School of Life Sciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil |
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| Abstract: | In the present report, we describe targeted next-generation sequencing of the EDA gene of a male poodle with a clinical and histopathological diagnosis of X-linked hypohidrotic ectodermal dysplasia. The result was compared with the reference sequence and with the result of the sequencing of a normal dog's EDA gene. No point variant, small deletion or insertion were found in the exons and splice sites, but a transition and a transversion were found in the intron 6 and 3′ UTR, respectively. The cause of the dysplasia of the affected dog in this study is neither a point variant nor a small deletion or insertion in the exons and splice sites of the EDA gene. Therefore, patients with phenotype of XLHED may have other types of variants in the EDA gene or variants in other genes of the EDA signalling pathway. |
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