OMIA 001540-9615 : Ciliary dyskinesia, primary in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613807

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific name: Primary ciliary dyskinesia

Species-specific symbol: PCD

Mapping: By conducting a GWAS on 5 affected and 15 control Old English Sheepdogs (that all traced back to a common ancestor), each genotyped with an Affymetrix v2.0 Canine SNP chip, Merveille et al. (2011), from the LUPA consortium, identified a 15Mb region of autozygosity on chromosome CFA34.

Molecular basis: Sequencing of the six most-likely candidate genes in the CFA34 candidate region (see Mapping section) region identified a nonsense mutation in the CCDC39 gene, which encodes coiled-coil domain-containing protein 39. By searching for CCDC39 mutations in PCD cases in humans (where PCD is a heterogeneous inherited disorder), they were able to identify a new cause of human PCD. This study highlights the power of canine genomic studies to inform knowledge of human inherited disorders that are genetically heterogeneous.

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."

Clinical features: As reported by Merveille et al. (2014), "Clinical findings were recurrent nasal discharge and cough, pyrexia, leucocytosis, and bronchopneumonia."

Prevalence: After genotyping "578 OES [Old English Sheepdogs], including 28 affected and 550 clinically healthy dogs" for the mutation discovered by Merveille et al. (2011) (see Molecular section), Merveille et al. (2014) reported that ""The mutation was more frequent in nonrandomly selected European OES population with a higher proportion of carriers (19%) compared to non-European dogs (7%).

Breeds: Old English Sheepdog, Schnauzer.

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
CCDC39 coiled-coil domain containing 39 Canis lupus familiaris 34 NC_051838.1 (13860663..13816636) CCDC39 Homologene, Ensembl, NCBI gene
NAT10 N-acetyltransferase 10 (GCN5-related) Canis lupus familiaris 18 NC_051822.1 (34303932..34265986) NAT10 Homologene, Ensembl, NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Old English Sheepdog Ciliary dyskinesia, primary CCDC39 nonsense (stop-gain) CanFam3.1 34 g.13952270C>T c.286C>T p.R96* 2011 21131972 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool


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.
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 :, 2021. Pubmed reference: 33755251. DOI: 10.1111/jvim.16100.
2014 Merveille, A.C., Battaille, G., Billen, F., Deleuze, S., Fredholm, M., Thomas, A., Clercx, C., Lequarré, A.S. :
Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old english sheepdogs. J Vet Intern Med 28:771-8, 2014. Pubmed reference: 24773602. DOI: 10.1111/jvim.12336.
2011 Merveille, A.C., Davis, E.E., Becker-Heck, A., Legendre, M., Amirav, I., Bataille, G., Belmont, J., Beydon, N., Billen, F., Clément, A., Clercx, C., Coste, A., Crosbie, R., de Blic, J., Deleuze, S., Duquesnoy, P., Escalier, D., Escudier, E., Fliegauf, M., Horvath, J., Hill, K., Jorissen, M., Just, J., Kispert, A., Lathrop, M., Loges, N.T., Marthin, J.K., Momozawa, Y., Montantin, G., Nielsen, K.G., Olbrich, H., Papon, J.F., Rayet, I., Roger, G., Schmidts, M., Tenreiro, H., Towbin, J.A., Zelenika, D., Zentgraf, H., Georges, M., Lequarré, A.S., Katsanis, N., Omran, H., Amselem, S. :
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43:72-8, 2011. Pubmed reference: 21131972. DOI: 10.1038/ng.726.
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.
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 Veterinary Record 144:718-+, 1999. Pubmed reference: 10423815.
1998 Watson, P.J., Herrtage, M.E., Sargan, D. :
Primary ciliary dyskinesia in Newfoundland dogs Veterinary Record 143:484, 1998. Pubmed reference: 9829312.
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 Veterinary Pathology 28:347-353, 1991. Pubmed reference: 1750159.
1989 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.
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 21 Jul 2011
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 29 Jun 2013
  • Changed by Frank Nicholas on 02 May 2014
  • Changed by Imke Tammen2 on 06 Apr 2021