The detail information of Ciliary dyskinesia, primary
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2011

Species-specific name: Primary ciliary dyskinesia

Species-specific symbol: PCD

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB174 Old English Shepherd Dog 55.9 cm & up (male), 53.3 cm & up (female) 27.2-45.4 kg United Kingdom (England)
Associated Gene
There are no associated genes.
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.
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.,deBlic,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.,DeBusscher,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 DeScally,M.,Lobetti,RG.,VanWilpe,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 .
1987 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 .
1987 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 .
1984 Conner,MW.,Davies,P.: :
Immotile ciliary syndrome in dogs. J Am Vet Med Assoc 184:624-6, 1984.
Pubmed reference: 6233247 .
1984 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 .