1. Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
- Author
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Packer, R, Logan, M, Guo, L, Apte, S, Bader, H, OBrien, D, Johnson, G, and Shelton, G
- Subjects
ADAMTSL2 ,Chinese Beagle syndrome ,ballerina Beagle syndrome ,geleophysic dysplasiacanine ,Animals ,Bone Diseases ,Developmental ,Dog Diseases ,Dogs ,Female ,Humans ,Joint Diseases ,Limb Deformities ,Congenital ,Male ,Mice ,Phenotype ,Skin Abnormalities - Abstract
Musladin-Lueke syndrome (MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s. Recent research identified a founder mutation (c.660C>T; p.R221C) in the ADAMTSL2 gene in Beagles with MLS. Here, we report the detailed clinical phenotype and laboratory findings in 2 Beagles affected with MLS. We discuss these findings in relation to the human disorder geleophysic dysplasia (GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice.
- Published
- 2017