Acrodermatitis, Lethal (LAD)
Breed: Bull Terrier
Generic Phene Data
Breeds
Relevance Rating: There is strong evidence or research available for these breeds
General
Disease Name
Acrodermatitis, Lethal (LAD)
OMIA
2146
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Test Type
Genetic Disease/Disorder
Details
Puppies Affected by Lethal Acrodermatits (LAD) have characteristic skin lesions and fail to thrive. These lesion consist of Erythema and adherent scales, primary on the feet, elbows, hocks and muzzle. Hyperkeratosis of the foot pads also occurs. Dogs with LAD are also immunodeficient, so frequently suffering from skin infections such as Malassezia or Candida. Puppies suffering from this condition have a greatly reduced lifespan either due to infections or they are euthanized when the condition becomes very severe and painful. (From the AHT)
Details 2
"Affected puppies show characteristic skin lesions on the feet and on the face, diarrhea, bronchopneumonia, and a failure to thrive. The skin lesions consist of erythema and tightly adherent scales, erosions or ulcerations with crusts involving primarily the feet, distal limbs, elbows, hocks, and muzzle. Later on, hyperkeratosis of the footpads and deformation of the nails occur. LAD affected dogs also show a coat color dilution in pigmented skin areas. An abnormally arched hard palate impacted with decayed, malodorous food is a characteristic clinical marker for the disease (Jezyk et al. 1986; McEwan, 1990; McEwan et al. 2000). LAD dogs are immunodeficient with a reduction in serum IgA levels and frequently suffer from skin infections with Malassezia or Candida (McEwan et al. 2001; McEwan et al. 2003). Affected puppies typically die before they reach an age of two years, either due to infections such as bronchopneumonia or because they are euthanized when their paw pad lesions become very severe and painful. They grow slower than their non-affected littermates and at the age of one year have about half the body weight and size of an unaffected dog (McEwan et al. 2000)." [This summary was copied from Bauer et al. 2018]
Published
2018, Bauer, A., Jagannathan, V., Högler, S., Richter, B., McEwan, N.A., Thomas, A., Cadieu, E., André, C., Hytönen, M.K., Lohi, H., Welle, M.M., Roosje, P., Mellersh, C., Casal, M.L., Leeb, T. : MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet 14:e1007264, 2018. Pubmed reference: 29565995. DOI: 10.1371/journal.pgen.1007264.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Lethal Acrodermatitis
Gene Name
MKLN1
Mutation
c.400 + 3A> C
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
GenSol Diagnostics
GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Lethal Acrodermatitis
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Lethal Acrodermatitis
Gene Name
MKLN1
Mutation
c.400+3A>C
Mutation Comment
g.5731405T>G
Nature of test
mutation test
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Canine Genetic Testing
GTP
GTP Name
Canine Genetic Testing
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Lethal Acrodermatitis
Gene Name
MKLN1
Mutation
c.400 + 3A> C
Nature of test
mutation test
Application in the Breed
Dermatosis characterized by poor growth, immune deficiency, and skin lesions, especially at the paws and in the face
Inheritance
AR
FCI Number
11
GTP Breed
Bull Terrier
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
MKLN1
Mutation
c.400 + 3A> C