Cleft Lip with or without Cleft Palate
Breed: Nova Scotia Duck Tolling Retriever
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Cleft Lip with or without Cleft Palate
OMIA
1140
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
Test Type
Genetic Disease/Disorder
Details
A cleft palate is an abnormal opening in the roof of the mouth. It is the result of failure of the two sides of the palate (roof of the mouth) to come together and fuse during embryonic development. A cleft palate results in an opening between the nasal passages and the mouth. Symptoms expected with a cleft palate include: runny nose, coughing, aspiration pneumonia (pneumonia caused by milk and food contents entering the cleft and infecting the lungs), respiratory difficulty (caused by aspiration pneumonia), difficulty sucking and nursing (for puppies), slow growth, weight loss, lack of appetite. Cleft palates can be inherited, and also have non-inherited causes, such as environmental effects - i.e. vitamin deficencies.
Details 2
Cleft lip (often referred to incorrectly as a ?hair lip? or more appropriately as palatoschisis or congenital oronasal fistula) and cleft palate are birth defects that occur when a puppy's lip or mouth do not form properly during pregnancy. Symptoms with a cleft palate can include: runny nose, coughing, aspiration pneumonia, respiratory difficulty (caused by aspiration pneumonia), difficulty sucking and nursing, slow growth, weight loss, lack of appetite. Cleft palates can be inherited, and also have non-inherited causes, such as environmental effects.
Published
Wolf, Z.T., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis, F.W., Murray, J.C., Wade, C.M., Marazita, M.L., Bannasch, D.L. : Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 11:e1005059, 2015. Pubmed reference: 25798845. DOI: 10.1371/journal.pgen.1005059.
Published 2
Peralta, S., Fiani, N., Kan-Rohrer, K.H., Verstraete, F.J.M. : Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res 78:926-933, 2017. Pubmed reference: 28738009. DOI: 10.2460/ajvr.78.8.926.
Body/System/Process
Anatomic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Nova Scotia Duck Tolling Retriever
HSP Test-Specific Data
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wolf, Z.T., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
312
GTP Breed
Nova Scotia duck tolling Retriever
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
Nature of test
mutation test
FCI Number
312
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wolf, Z.T., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis
Inheritance
AR
FCI Number
312
GTP Breed
Nova Scotia duck tolling Retriever
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Genome-wide association studies in dogs
Inheritance
AR
FCI Number
312
GTP Breed
Nova Scotia duck tolling Retriever
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
Nature of test
mutation test
GTP- or Breed-Specific Publications
Wolf, Z.T., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis
Inheritance
AR
FCI Number
312
GTP Breed
Nova Scotia duck tolling Retriever