OMIA:000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris (dog) |
In other species: domestic cat , pig
Categories: Respiratory system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 244400 (trait)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: Congenital defect in functioning of the cilia, which are minute hair-like processes that extend from cell surfaces, beating ryhthmically to move fluid or mucous over the surface. The abnormal functioning results in bronchiectasis (chronic dilation of the bronchi and bronchioles, with associated infection) and sinusitis (inflammation of one or more of the paranasal sinuses). It is also associated with dextrocardia (location of the heart in the right side of the thorax, rather than the usual left side). This phene was renamed in OMIA from 'Kartagener syndrome' to 'Ciliary dyskinesia, primary, generic' [3/6/2022].
Species-specific name: Several types of primary ciliary dyskinesia (also called Kartagener syndrome, immotile-cilia syndrome) exist. This entry focuses on primary ciliary dyskinesia for which likely causal variants have not been identified. Types of this disease for which a causal gene has been identified are listed in separate entries, e.g. 'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' (Alaskan Malamute) or 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' (Old English Sheepdog).
Molecular basis: Hedgespeth et al. (2021) "identified a novel mutation of the NAT10 gene in a young Schnauzer dog with chronic respiratory tract infections, gastrointestinal tract abnormalities, and chronic leukocytosis. ...The variant in the NAT10 gene (ENSCAFG00000007028) was a heterozygous A/C missense mutation on chromosome 18 at position 33675758 ... . The variant changed the amino acid from a highly conserved positively charged histidine to a polar uncharged glutamine ... . The variant was predicted to be a deleterious change by all 3 in silico prediction algorithms. ... It is possible that the dog's recurrent bacterial pneumonia was secondary to ciliary dyskinesia, aplasia, or both as a result of inappropriate NAT10 function." No ciliary analysis to determine whether ciliary dysfunction or aplasia was present was conducted (Hedgespeth et al. 2021). The variant is therefore currently not listed in OMIA's likely causal variant table.
Breeds:
Bichon Frise (Dog) (VBO_0200163),
Chinese Shar-Pei (Dog) (VBO_0200351),
Chow Chow (Dog) (VBO_0200361),
Dachshund (Dog) (VBO_0200406),
Dalmatian (Dog) (VBO_0200427),
Doberman Pinscher (Dog) (VBO_0200442),
English Setter (Dog) (VBO_0200495),
English Springer Spaniel (Dog) (VBO_0200497),
Golden Retriever (Dog) (VBO_0200610),
Newfoundland (Dog) (VBO_0200938),
Rottweiler (Dog) (VBO_0201143),
Schnauzer (Dog) (VBO_0201185),
Staffordshire Bull Terrier (Dog) (VBO_0201296).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| NAT10 | N-acetyltransferase 10 (GCN5-related) | Canis lupus familiaris | 18 | NC_051822.1 (34303932..34265986) | NAT10 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000573-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2023 | Jung, R., Choi, J., Bae, H., Jung, D.I., Cho, K.O., Yu, D. : |
| Siewert-Kartagener's syndrome in a dog. J Vet Sci 24:e57, 2023. Pubmed reference: 37532300. DOI: 10.4142/jvs.23029. | |
| 2021 | Hedgespeth, B.A., Birkenheuer, A.J., Friedenberg, S.G., Olby, N.J., Meurs, K.M. : |
| A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections. J Vet Intern Med 35:1542-6, 2021. Pubmed reference: 33755251. DOI: 10.1111/jvim.16100. | |
| 2017 | Miranda, I.C., Granick, J.L., Armién, A.G. : |
| Histologic and ultrastructural findings in dogs with chronic respiratory disease suspected of ciliary dyskinesia. Vet Pathol 54:802-812, 2017. Pubmed reference: 28494707. DOI: 10.1177/0300985817705170. | |
| 2016 | Bell, E.T., Griffin, P., Martinello, P., Robinson, P. : |
| Primary ciliary dyskinesia in two English Cocker Spaniels. Aust Vet J 94:149-153, 2016. Pubmed reference: 27113985. DOI: 10.1111/avj.12418. | |
| 2014 | Beck, J.A., Ard, M., Howerth, E.W. : |
| Pathology in practice. Primary ciliary dyskinesia (PCD) with associated bronchopneumonia, bronchiectasis, and hydrocephalus in a dog. J Am Vet Med Assoc 244:421-423, 2014. Pubmed reference: 24479455. DOI: 10.2460/javma.244.4.421. | |
| 2009 | Leigh, M.W., Pittman, J.E., Carson, J.L., Ferkol, T.W., Dell, S.D., Davis, S.D., Knowles, M.R., Zariwala, M.A. : |
| Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 11:473-87, 2009. Pubmed reference: 19606528. DOI: 10.1097/GIM.0b013e3181a53562. | |
| 2008 | Cavrenne, R., De Busscher, V., Bolen, G., Billen, F., Clercx, C., Snaps, F. : |
| Primary ciliary dyskinesia and situs inversus in a young dog. Vet Rec 163:54-5, 2008. Pubmed reference: 18621999. | |
| 2004 | De Scally, M., Lobetti, RG., Van Wilpe, E. : |
| Primary ciliary dyskinesia in a Staffordshire bull terrier. J S Afr Vet Assoc 75:150-2, 2004. Pubmed reference: 15628808. | |
| 2002 | Neil, J.A., Canapp, S.O., Cook, C.R., Lattimer, J.C. : |
| Kartagener's syndrome in a Dachshund dog J Am Anim Hosp Assoc 38:45-9, 2002. Pubmed reference: 11804314. DOI: 10.5326/0380045. | |
| 2001 | Reichler, I.M., Hoerauf, A., Guscetti, F., Gardelle, O., Stoffel, M.H., Jentsch, B., Walt, H., Arnold, S. : |
| Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog. J Small Anim Pract 42:345-8, 2001. Pubmed reference: 11480901. DOI: 10.1111/j.1748-5827.2001.tb02471.x. | |
| 2000 | Clercx, C., Peeters, D., Beths, T., McEntee, K., Votion, D., Snaps, F., Henroteaux, M., Jorissen, M. : |
| Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog Journal of the American Veterinary Medical Association 217:1681-1685, 2000. Pubmed reference: 11110460. | |
| 1999 | Watson, P.J., Herrtage, M.E., Peacock, M.A., Sargan, D.R. : |
| Primary ciliary dyskinesia in Newfoundland dogs Vet Rec 144:718-25, 1999. Pubmed reference: 10423815. DOI: 10.1136/vr.144.26.718. | |
| 1998 | Watson, P.J., Herrtage, M.E., Sargan, D. : |
| Primary ciliary dyskinesia in Newfoundland dogs Veterinary Record 143:484, 1998. Pubmed reference: 9829312. | |
| 1994 | Haller, M., Guscetti, F. : |
| Chronic rhinosinusitis, bronchitis and situs-inversus in 2 English Cocker-Spaniel littermates - primary ciliary dyskinesia? Kleintierpraxis 39:865-868, 1994. | |
| 1992 | Edwards, DF., Patton, CS., Kennedy, JR. : |
| Primary ciliary dyskinesia in the dog. Probl Vet Med 4:291-319, 1992. Pubmed reference: 1643316. | |
| 1991 | Maddux, J.M., Edwards, D.F., Barnhill, M.A., Sanders, W.L. : |
| Neutrophil function in dogs with congenital ciliary dyskinesia. Vet Pathol 28:347-53, 1991. Pubmed reference: 1750159. DOI: 10.1177/030098589102800501. | |
| 1989 | Edwards, D.F., Kennedy, J.R., Toal, R.L., Maddux, J.M., Barnhill, M.A., Daniel, G.B. : |
| Kartageners Syndrome in a Chow Chow Dog with Normal Ciliary Ultrastructure Veterinary Pathology 26:338-340, 1989. Pubmed reference: 2788326. | |
| Edwards, D.F., Kennedy, J.R., Patton, C.S., Toal, R.L., Daniel, G.B., Lothrop, C.D. : | |
| Familial Immotile-Cilia Syndrome in English Springer Spaniel Dogs American Journal of Medical Genetics 33:290-298, 1989. Pubmed reference: 2801763. DOI: 10.1002/ajmg.1320330303. | |
| 1987 | Killingsworth, CR., Slocombe, RF., Wilsman, NJ. : |
| Immotile cilia syndrome in an aged dog. J Am Vet Med Assoc 190:1567-71, 1987. Pubmed reference: 3610767. | |
| Morrison, WB., Frank, DE., Roth, JA., Wilsman, NJ. : | |
| Assessment of neutrophil function in dogs with primary ciliary dyskinesia. J Am Vet Med Assoc 191:425-30, 1987. Pubmed reference: 3654315. | |
| Morrison, WB., Wilsman, NJ., Fox, LE., Farnum, CE. : | |
| Primary ciliary dyskinesia in the dog. J Vet Intern Med 1:67-74, 1987. Pubmed reference: 3506090. DOI: 10.1111/j.1939-1676.1987.tb01989.x. | |
| 1984 | Afzelius, BA., Carlsten, J., Karlsson, S. : |
| Clinical, pathologic, and ultrastructural features of situs inversus and immotile-cilia syndrome in a dog. J Am Vet Med Assoc 184:560-3, 1984. Pubmed reference: 6706800. | |
| Conner, MW., Davies, P. : | |
| Immotile ciliary syndrome in dogs. J Am Vet Med Assoc 184:624-6, 1984. Pubmed reference: 6233247. | |
| Randolph, J.F., Castleman, W.L. : | |
| Immotile cilia syndrome in two Old-English sheep dog littermates. J. Small Anim. Pract. 25:679-686, 1984. | |
| 1983 | Edwards, DF., Patton, CS., Bemis, DA., Kennedy, JR., Selcer, BA. : |
| Immotile cilia syndrome in three dogs from a litter. J Am Vet Med Assoc 183:667-72, 1983. Pubmed reference: 6629977. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 05 Aug 2013
- Changed by Imke Tammen2 on 03 Jun 2022