Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
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.
Department of Veterinary Clinical Sciences, Purdue University, West Lafayette, IN.|Department of Basic Medical Sciences, Purdue University, West Lafayette, IN.
R A
RA
Packer
Department of Veterinary Clinical Sciences, Purdue University, West Lafayette, IN.|Department of Basic Medical Sciences, Purdue University, West Lafayette, IN.
M A
MA
Logan
Department of Pathology, School of Medicine, University of California - San Diego, La Jolla, CA.
L T
LT
Guo
Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH.
S S
SS
Apte
Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH.
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H
Bader
Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, MO.
D P
DP
O'Brien
Department of Veterinary Medicine and Surgery, University of Missouri, Columbia, MO.
G
G
Johnson
Department of Pathology, School of Medicine, University of California - San Diego, La Jolla, CA.
G D
GD
Shelton
D000818:Animals; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology; D004283:Dog Diseases / Q000235:genetics* / Q000473:pathology; D004285:Dogs; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology; D008297:Male; D051379:Mice; D010641:Phenotype; D012868:Skin Abnormalities / Q000235:genetics / Q000473:pathology / Q000662:veterinary*
ADAMTSL2; Chinese Beagle syndrome; ballerina Beagle syndrome; geleophysic dysplasiacanine