Clinical Phenotype of Musladin‐Lueke Syndrome in 2 Beagles |
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| Authors: | RA Packer MA Logan LT Guo SS Apte H Bader DP O'Brien G Johnson GD Shelton |
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| Institution: | 1. Department of Veterinary Clinical Sciences, Purdue University, West Lafayette, IN;2. Department of Basic Medical Sciences, Purdue University, West Lafayette, IN;3. Department of Pathology, School of Medicine, University of California ‐ San Diego, La Jolla, CA;4. Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH;5. Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, MO |
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| 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. |
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| Keywords: | ADAMTSL2 ballerina Beagle syndrome Chinese Beagle syndrome geleophysic dysplasiacanine |
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