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Primary Ciliary Dyskinesia     PCD Test        Code 365

Test Pricing

For breeds: Old English Sheepdog

Clinical signs/Disease description:

Primary 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

A mutation in CCDC39 gene has been identified as the cause of Primary Ciliary Dyskinesia in Old English Sheepdog [1]. The CCDC39 mutation is common in both European and North American populations with estimated frequency of carries of 19 % and 7%, respectively [2].

ANTAGENE, 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.

The 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).

PLEASE NOTE: 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 for reporting.

Testing/breeding recommendations:

Primary 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.

References:

1. 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]



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