Moura E, Daltro S R T, Sás D M, Engracia Filho J R, Farias M R, Pimpão C T
Service of Medical Genetics, Course of Veterinary Medicine, School of Life Sciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
Instituto Gonçalo Moniz, Fundação Oswaldo Cruz, Salvador, Bahia, Brazil.
J Small Anim Pract. 2021 Dec;62(12):1127-1130. doi: 10.1111/jsap.13385. Epub 2021 Jun 2.
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.
在本报告中，我们描述了一只雄性贵宾犬的EDA基因靶向新一代测序情况，该犬经临床和组织病理学诊断为X连锁少汗型外胚层发育不良。将结果与参考序列以及正常犬EDA基因的测序结果进行了比较。在外显子和剪接位点未发现点变异、小缺失或插入，但分别在内含子6'和3'非翻译区发现了一个转换和一个颠换。本研究中患病犬发育不良的原因既不是EDA基因外显子和剪接位点的点变异，也不是小缺失或插入。因此，具有XLHED表型的患者可能在EDA基因中有其他类型的变异，或者在EDA信号通路的其他基因中有变异。
