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Primary Ciliary Dyskinesia
Breed: Bobtail/ Old English Sheepdog
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Primary Ciliary Dyskinesia
OMIA
1540
Gene Name
CCDC39
Mutation
C.286C>T
Test Type
Genetic Disease/Disorder
Details
PCD is identified by a defects in cilia, during development, and is present from birth. Dogs experience frequent infections of the upper and lower respiratory tract. There are also reports of reduced fertility in males.
Details 2
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by abnormally functioning cilia. The main clinical signs are recurrent or persistent respiratory infections because of the lack of effective ciliary motility causing abnormal mucociliary clearance.[1] The dysfunction of the monocilia of the embryonic node might also lead to the randomization of the left-right body asymmetry and transposition of the thoracic and abdominal organs in 50% of the cases called the Kartagener's syndrome.[2] Male fertility can be impaired because of defects of the spermatozoa flagella. Disorders such as hydrocephalus or serous otitis have occasionally been reported. (from Merveille et al, 2014)
Published
Merveille, A.C., Davis, E.E., Becker-Heck et al. 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.
Published 2
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.
Body/System/Process
Respiratory
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Old English Sheepdog
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. 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
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. 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
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
16
GTP Breed
Bobtail
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. 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
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
CCDC39
Mutation
c.286C>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Mutation Comment
g.13952270G>A
Nature of test
mutation test
FCI Number
16
GTP Breed
Bobtail
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. 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
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Kartagner syndrome
GTP Disease Synonym
Primary Ciliary Dyskinesia
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
FCI Number
16
GTP Breed
Bobtail
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
CCDC39
Mutation
c.286C>T
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Kartagner syndrome
Gene Name
CCDC39
Mutation
c.286C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Merveille, A.C., Davis, E.E., Becker-Heck et al. 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
Application in the Breed
Carriers may be bred to normal animals (N/pcd x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/pcd x N/pcd) nor of affected animals (pcd/pcd). Frequent infections of the upper and lower respiratory tract. Reduced fertility in males, and defects in cilia ( situs inversus during development)
Inheritance
AR
FCI Number
16
GTP Breed
Bobtail
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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