Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Musladin-Lueke Syndrome

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

General

Disease Name
Musladin-Lueke Syndrome
Mutation
c.660C>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.
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.