Genetic Characterization of Congenital Defects in Dogs: Caudal Dysplasia, Ectodermal Dysplasia, and Mucopolysaccharidosis VII

This study investigated the genetics of three inherited developmental defects in dogs: caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, which have human counterparts. For caudal dysplasia, a mutation in the T gene was linked to short-tail phenotype in 17 dog breeds, with homozygous mutations being lethal. Ectodermal dysplasia was linked to a 7-bp duplication in the FOXI3 gene, affecting hair and tooth formation. In Brazilian Terriers, mucopolysaccharidosis VII was caused by a mutation in the GUSB gene. The study highlighted the use of dogs as models for human diseases, identified new genetic pathways, and developed genetic tests for breeding purposes.