Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

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Mansour, Tamer
Woolard, Kevin
Vernau, Karen
Ancona, Devin
Thomasy, Sara
Moore, Bret
Knipe, Marguerite
Seada, Haitham
Cowan, Tina
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Biomedical Sciences

The Department of Biomedical Sciences aims to provide knowledge of anatomy and physiology in order to understand the mechanisms and treatment of animal diseases. Additionally, it seeks to teach the understanding of drug-action for rational drug-therapy, as well as toxicology, pharmacodynamics, and clinical drug administration.

The Department of Biomedical Sciences was formed in 1999 as a merger of the Department of Veterinary Anatomy and the Department of Veterinary Physiology and Pharmacology.

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  • College of Veterinary Medicine (parent college)
  • Department of Veterinary Anatomy (predecessor, 1997)
  • Department of Veterinary Physiology and Pharmacology (predecessor, 1997)

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Veterinary Clinical Sciences
The mission of the Veterinary Clinical Sciences Department and the Veterinary Medical Center is to be strong academically, to provide outstanding services, and to conduct research in the multiple areas of Veterinary Clinical Sciences. Our goals are to teach students in the multiple disciplines of Veterinary Clinical Sciences, to provide excellent veterinary services to clients, and to generate and disseminate new knowledge in the areas of Veterinary Clinical Sciences. Our objectives are to provide a curriculum in the various aspects of Veterinary Clinical Sciences which ensures students acquire the skills and knowledge to be successful in their chosen careers. We also strive to maintain a caseload of sufficient size and diversity which insures a broad clinical experience for students, residents, and faculty. In addition, we aim to provide clinical veterinary services of the highest standards to animal owners and to referring veterinarians. And finally, we strive to provide an environment and opportunities which foster and encourage the generation and dissemination of new knowledge in many of the disciplines of Veterinary Clinical Sciences.
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Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans. A 15-month-old Boston Terrier presented with clinical signs consistent with lysosomal storage disease including corneal opacities, multifocal central nervous system disease and progressively worsening clinical course. Diagnosis was confirmed at necropsy based on histopathologic evaluation of multiple organs demonstrating accumulation of mucopolysaccharides. Whole genome sequencing was used to uncover a frame-shift insertion affecting the alpha-L-iduronidase (IDUA) gene (c.19_20insCGGCCCCC), a mutation confirmed in another Boston Terrier presented 2 years later with a similar clinical picture. Both dogs were homozygous for the IDUA mutation and shared coat colors not recognized as normal for the breed by the American Kennel Club. In contrast, the mutation was not detected in 120 unrelated Boston Terriers as well as 202 dogs from other breeds. Recent inbreeding to select for recessive and unusual coat colors may have concentrated this relatively rare allele in the breed. The identification of the variant enables ante-mortem diagnosis of similar cases and selective breeding to avoid the spread of this disease in the breed. Boston Terriers carrying this variant represent a promising model for MPS I with neurological abnormalities in humans.


This article is published as Mansour, Tamer A., Kevin D. Woolard, Karen L. Vernau, Devin M. Ancona, Sara M. Thomasy, Lionel Sebbag, Bret A. Moore et al. "Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog." Scientific Reports 10 (2020): 6558. DOI: 10.1038/s41598-020-63451-4. Posted with permission.

Wed Jan 01 00:00:00 UTC 2020