A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections.
A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections.
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DOI：
10.1111/jvim.16100
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发表时间：
2021-05
影响因子：
2.6
通讯作者：
Meurs KM
中科院分区：
文献类型：
--
作者：
Hedgespeth BA;Birkenheuer AJ;Friedenberg SG;Olby NJ;Meurs KM
对一只 18 个月大的雄性雪纳瑞犬进行了慢性、终生呼吸道感染的评估，该感染对多种抗生素和皮质类固醇的治疗没有反应。该狗在一岁左右出现持续性呕吐和腹泻，对饮食改变、抗生素和皮质类固醇的反应微乎其微。尽管给予了支持性护理，但由于持续的呼吸道和胃肠道疾病，这只狗最终在 20 个月大时被安乐死。全基因组测序发现 NAT10 基因内存在有害的错义 A/C 突变，该基因对于微管乙酰化、适当的纤毛发育和胞质分裂至关重要。对 55 个品种的 579 只狗的基因组进行的管道分析没有检测到这种突变。尽管兽医学中从未描述过，但 NAT10 突变发生在患有纤毛发育不全的人类身上，这表明了这种狗的病理生理机制，并强调了狗慢性呼吸道感染的相关突变或可能的新遗传原因。
An 18‐month‐old intact male Schnauzer dog was evaluated for chronic, lifelong respiratory tract infections that were unresponsive to administration of a variety of antibiotics and corticosteroids. The dog developed persistent vomiting and diarrhea around 1 year of age that was minimally responsive to diet change, antibiotics, and corticosteroids. Despite supportive care, the dog was ultimately euthanized at 20 months of age due to persistent respiratory and gastrointestinal disease. Whole genome sequencing discovered a deleterious missense A/C mutation within the NAT10 gene, a gene essential for microtubule acetylation, appropriate ciliary development, and cytokinesis. Pipeline analysis of the genomes of 579 dogs from 55 breeds did not detect this mutation. Though never described in veterinary medicine, NAT10 mutation occurs in humans with ciliary aplasia, suggesting a pathophysiological mechanism for this dog and highlighting an associated mutation or possible novel genetic cause of chronic respiratory infections in dogs.
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影响因子：
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