Spondylocostal Dysostosis (Comma Defect)

Gene: HES7

Transmission : Autosomal recessive (lethal)

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: Deletion, HES7 gene; c.126 del.G, p.(T43P fs STOP 24)

Medical system: Skeleton

Breeds: Schnauzer - Miniature

References:

OMIA link: [1944-9615]

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]

Willet CE, Makara M, Reppas G, et al. (2015) Canine disorder mirrors human disease: Exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature schnauzer dogs.  PLOS One 10(2): e0117055 [pubmed/25659135]