Genetic analysis of a possible case of canine X‐linked ectodermal dysplasia
| Autor: | J. R. Engracia Filho, D M Sás, Enio Moura, M. R. Farias, S R T Daltro, Cláudia Turra Pimpão |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Genetics
Ectodermal dysplasia 040301 veterinary sciences business.industry 0402 animal and dairy science Intron 04 agricultural and veterinary sciences medicine.disease 040201 dairy & animal science 0403 veterinary science Exon Dysplasia medicine Ectodysplasin A Hypohidrotic ectodermal dysplasia Small Animals Transversion business Gene |
| Zdroj: | Journal of Small Animal Practice. 62:1127-1130 |
| ISSN: | 1748-5827 0022-4510 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text