Geleophysic dysplasia, Musladin-Lueke Syndrome (MLS)

(Chinese Beagle Syndrome)

Gene: ADAMTSL2

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, ADAMTSL2 gene; c.661 C>T, p.(R221C), exon7

Medical system: Skeletal, dermal, dental

Breeds: American Staffordshire Terrier/Amstaff, Beagle, Boston Terrier, German Shepherd, Golden Retriever, Labrador Retriever, Pug

References:

OMIA link: [1509-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Packer RA, Logan MA, Guo LT, et al. (2017) Clinical phenotype of Musladin-Lueke syndrome in 2 Beagles. J Vet Intern Med 31:532-538. [pubmed/28158899]

Bader HL, Ruhe AL, Wang LW, Wong AK, Walsh KF, et al. (2010) An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. PLoS One 5(9). [pubmed/20862248]