A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections

Abstract 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 res...

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Autores principales:	Barry A. Hedgespeth, Adam J. Birkenheuer, Steven G. Friedenberg, Natasha J. Olby, Kathryn M. Meurs
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	ciliary dysplasia congenital genetics microtubule pneumonia whole genome sequencing Veterinary medicine SF600-1100
Acceso en línea:	https://doaj.org/article/7f4cf401cd9541399a18e5e2d6b3b6e1
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spelling	oai:doaj.org-article:7f4cf401cd9541399a18e5e2d6b3b6e12021-11-30T17:01:04ZA novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections1939-16760891-664010.1111/jvim.16100https://doaj.org/article/7f4cf401cd9541399a18e5e2d6b3b6e12021-05-01T00:00:00Zhttps://doi.org/10.1111/jvim.16100https://doaj.org/toc/0891-6640https://doaj.org/toc/1939-1676Abstract 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.Barry A. HedgespethAdam J. BirkenheuerSteven G. FriedenbergNatasha J. OlbyKathryn M. MeursWileyarticleciliary dysplasiacongenitalgeneticsmicrotubulepneumoniawhole genome sequencingVeterinary medicineSF600-1100ENJournal of Veterinary Internal Medicine, Vol 35, Iss 3, Pp 1542-1546 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	ciliary dysplasia congenital genetics microtubule pneumonia whole genome sequencing Veterinary medicine SF600-1100
spellingShingle	ciliary dysplasia congenital genetics microtubule pneumonia whole genome sequencing Veterinary medicine SF600-1100 Barry A. Hedgespeth Adam J. Birkenheuer Steven G. Friedenberg Natasha J. Olby Kathryn M. Meurs A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections
description	Abstract 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.
format	article
author	Barry A. Hedgespeth Adam J. Birkenheuer Steven G. Friedenberg Natasha J. Olby Kathryn M. Meurs
author_facet	Barry A. Hedgespeth Adam J. Birkenheuer Steven G. Friedenberg Natasha J. Olby Kathryn M. Meurs
author_sort	Barry A. Hedgespeth
title	A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections
title_short	A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections
title_full	A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections
title_fullStr	A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections
title_full_unstemmed	A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections
title_sort	novel missense mutation of the nat10 gene in a juvenile schnauzer dog with chronic respiratory tract infections
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/7f4cf401cd9541399a18e5e2d6b3b6e1
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A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections

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