A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections.
ciliary dysplasia
congenital
genetics
microtubule
pneumonia
whole genome sequencing
Journal
Journal of veterinary internal medicine
ISSN: 1939-1676
Titre abrégé: J Vet Intern Med
Pays: United States
ID NLM: 8708660
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
revised:
21
02
2021
received:
24
11
2020
accepted:
24
02
2021
pubmed:
24
3
2021
medline:
29
6
2021
entrez:
23
3
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33755251
doi: 10.1111/jvim.16100
pmc: PMC8162599
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1542-1546Subventions
Organisme : NIH HHS
ID : K01 OD027058
Pays : United States
Organisme : NIH HHS
ID : T32 OD011130
Pays : United States
Informations de copyright
© 2021 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals LLC on behalf of American College of Veterinary Internal Medicine.
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