Osteogenesis Imperfecta, OI (Dachshund type)

Gene: SERPINH1

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, SERPINH1 gene; c.977 C>T, p.(L326P), exon5

Medical system: Skeletal

Breeds: Dachshund Miniature Longhair/Shorthair, Dachshund Standard Wirehair

Age at onset of clinical signs: 3 to 4 weeks

Osteogenesis Imperfecta is a genetic disease caused by a defect in the synthesis of collagen, a structural protein making up bones and ligaments. The protein produced by the SERPINH1 gene is involved in the assembly of collagen proteins, and when it is defective, collagen is not formed correctly.  Affected Dachshund puppies have thinner, more fragile bones that don’t heal properly when damaged.  Affected animals suffer from pain and lameness, have loose joints, brittle teeth and their bones fracture easily, especially of the long bones and ribs. As there is no cure and no satisfactory treatment, affected animals are usually euthanized due to their poor quality of life.  Since mutations in the SERPINH1 gene are recessive, they can be maintained within breeding populations of Dachshunds by the presence of silent carriers, thus warranting DNA testing.

References:

OMIA link: [1483-9615]

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]

Lindert U, Weis MA, Rai J, Seelinger F, et al. (2015) Molecular consequences of the SERPINH1/HSP47 mutation in the Dachshund natural model of osteogenesis imperfecta.  JBC 290(29):17679-17689.  [pubmed/26004778]

Eckardt J, Kluth S, Dierks C, et al. (2013) Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec. 2013 Apr 6;172(14):364. [pubmed/23315765]

Schütz E, Brenig B, Scharfenstein M, Drögemüller C, Leeb T. (2013) Osteogenesis imperfecta in dachshunds. Vet Rec 172:319, [pubmed/23525816]

Drögemüller C, Becker D, Brunner A, et al. (2009) A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet. 5(7):e1000579. [pubmed/19629171]

Seeliger F, Leeb T, Peters M, et al. (2003) Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol. 40(5):530-9. [pubmed/12949410]