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独立的COL17A1 变体在患有结节性表皮溶解的猫群中

Sarah Kiener^1,2, Heather Troyer³, Daniel Ruvolo³

¹Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

|October 28, 2023

概括

两只患有牛皮膜溶解 (EB) 的猫被诊断为结节EB (JEB),原因是新型的COL17A1基因变异. 基因分析解释了不同疾病的严重程度,进步了对这种罕见疾病的理解.

科学领域:

兽医遗传学兽医遗传学
皮肤病学皮肤病学
分子生物学分子生物学

背景情况:

牛皮表皮溶解 (EB) 是一组遗传性皮肤疾病,其特点是皮肤脆弱和水泡形成.
皮肤对皮肤的缺陷表皮粘附是EB的基础,在人类和动物中呈现出不同的亚型.
两只与猫无关的猫表现出与EB一致的临床症状,促使进一步调查.

研究的目的:

在两个猫类病例中诊断和遗传特征EB.
调查猫类EB的临床变异性的遗传基础.
为了阐明与COL17A1相关的结节EB (JEB) 中的基因型-表型相关性.

主要方法:

皮肤活检的组织病理学检查以确认EB诊断.
全基因组测序以确定受影响猫的遗传变异.
在 silico 预测和转录级分析以评估变异的功能影响.

主要成果:

组织病理学证实了两只猫的EB,第1例是严重的,第2例是温和的.
全基因组测序确定了两只猫的 COL17A1 基因中独立的同卵性变异.
病例1的完全功能丧失变体和病例2的部分功能丧失变体解释了不同的临床严重程度.

结论:

这项研究对两只猫的诊断进行了精细化,以结节性表皮溶解牛 (JEB).
已识别的COL17A1变体为猫类JEB的基因型-表型相关性提供了分子解释.
这项研究提高了对家庭动物EB复杂性和遗传基础的理解.

关键词:

猫 (Felis catus) 是一种动物.杰布·杰布 (Jeb Jeb) 是一个非常有价值的人.在WGS中,使用的是WGS.动物模型动物模型皮肤学皮肤学精准医学是一门精准医学.皮肤皮肤皮肤拼接拼接拼接拼接

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