For breeds: Old English Sheepdog
Clinical signs/Disease description:
Ciliary Dyskinesia (PCD) is an inherited disorder characterized by
recurrent infections of the upper and lower respiratory tract, reduced
fertility in males and situs inversus, a transposition of internal
organs resulting in a mirror image of the normal placement of the heart
and lungs and sometimes other organs, in about 50% of affected
individuals (Kartagener syndrome). It is caused by motility defects in
specialized cell organelles called cilia that are responsible for the
respiratory airway clearance, the propelled movement of sperm cells and
the determination of the left-right asymmetry during embryo development.
In the Old English Sheepdog, PCD affected dogs typically develop
symptoms of respiratory disease a few days after birth and suffer from
chronic airway inflammation later in their life. This disorder also
causes immobility of sperm; therefore affected mature male dogs are
sterile. Cases of Kartagener syndrome have been also reported among PCD
affected dogs although the inversion of organs does not cause obvious
health problems [1, 2].
PCD mutation test
mutation in CCDC39 gene has been identified as the cause of Primary
Ciliary Dyskinesia in Old English Sheepdog . The CCDC39 mutation is
common in both European and North American populations with estimated
frequency of carries of 19 % and 7%, respectively .
a DNA research laboratory in France, offers a DNA test that detects the
mutation that causes Primary Ciliary dyskinesia in Old English
Sheepdog. OptiGen is pleased to assist North American owners of this
breed who wish to test their dogs for PCD. To make this test more
convenient for clients, OptiGen is serving as an agent for Antagene, by
rendering blood or cheek swab samples into DNA and shipping the DNA to
Antagene. Antagene will perform the DNA testing in their laboratory in
France. OptiGen will obtain the results of the test from Antagene as soon as the tests are completed and send reports to the owners.
Antagene DNA-based Primary Ciliary Dyskinesia (PCD) test distinguishes
the mutant and the normal copy of the gene and allows separation of dogs
into three groups: Normal/Clear (homozygous normal), Carrier
(heterozygous) and Affected (homozygous mutated).
The Primary Ciliary Dyskinesia (PCD) test is performed in the
laboratories of Antagene in France. There is typically a 3-4 week delay
after OptiGen receives a sample before AMS test results are available
Ciliary Dyskinesia (PCD) in Old English Sheepdogs is inherited in an
autosomal recessive manner, meaning that dogs of both sexes develop the
disease when they inherit two copies of the mutation. The representation
of specific symptoms is sex dependant: mature affected males are
sterile due to sperm immobility but females with two copies of the
mutation are fertile, while both sexes can have all other clinical signs
of this disorder.
Carriers of one copy of the mutation do not
develop clinical symptoms of PCD but they transmit the mutation to about
half of their progeny.
In order to avoid producing PCD affected
offspring, at least one parent of any litter should be DNA tested and
shown to be Normal/Clear of the PCD mutation.
Merveille AC, Davis EE, 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
NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon
JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D,
Zentgraf H, Georges M, Lequarré AS, 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. 2011 Jan; 43(1):72-8.
2. Merveille AC, Battaille G,
Billen F, Deleuze S, Fredholm M, Thomas A, Clercx C, Lequarré AS.
Clinical Findings and Prevalence of the Mutation Associated with Primary
Ciliary Dyskinesia in Old English Sheepdogs. J Vet Internal Med. 2014
Article first published online: 12 MAR 2014. [Not in PubMed]