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Musladin-Lueke Syndrome
Breeds
Relevance Rating: There is some evidence or research available in this breed
GTPs
General
Disease Name
Musladin-Lueke Syndrome
OMIA
1509
Gene Name
ADAMTSL2
Gene Name 2
CanFam 3.1, Chr. 9
Mutation
c.660C>T
Mutation 2
g.49931561C>T
Mutation 3
c.661C>T
Test Type
Genetic Disease/Disorder
Details
Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints characterized by short stature, thick, taut skin, and severely restricted joint mobility... Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, ?tip-toe? gait, and pleasant temperaments. (From Bader et al, 2010) Other reported symptoms include: occasional seizures, pain, failure to thrive and arthritis. Age of onset from birth.
Details 2
Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints...The genetic basis of MLS is a founder mutation in ADAMTSL2, previously shown to interact with latent TGF-? binding protein, which binds fibrillin-1... characterized by short stature, thick, taut skin, and severely restricted joint mobility . . . Affected dogs also have broad skulls with wide-set slanted eyes, creased ears, a hopping, ?tip-toe? gait, and pleasant temperaments. (From Bader et al, 2010)
Published
Bader, HL., Ruhe, AL., Wang, LW., Wong, AK., Walsh, KF., Packer, RA., Mitelman, J., Robertson, KR., O'Brien, DP., Broman, KW., Shelton, GD., Apte, SS., Neff, MW. :An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One 5:, 2010. Pubmed reference: 20862248. DOI: 10.1371/journal.pone.0012817.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Beagle
