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Musladin-Lueke Syndrome

Breeds

General

Disease Name
Musladin-Lueke Syndrome
OMIA
1509
Gene Name
ADAMTSL2
Mutation
c.660C>T
OMIM
231050
Disease Code
MLS
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Chinese Beagle Syndrome
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
Inheritance
AR
Gene Name Text
ADAMTS-like 2
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