Campus Units
Veterinary Clinical Sciences, Biomedical Sciences
Document Type
Article
Publication Version
Published Version
Publication Date
4-16-2020
Journal or Book Title
Scientific Reports
Volume
10
First Page
6558
DOI
10.1038/s41598-020-63451-4
Abstract
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.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright Owner
The Author(s)
Copyright Date
2020
Language
en
File Format
application/pdf
Recommended Citation
Mansour, Tamer A.; Woolard, Kevin D.; Vernau, Karen L.; Ancona, Devin M.; Thomasy, Sara M.; Sebbag, Lionel; Moore, Bret A.; Knipe, Marguerite F.; Seada, Haitham A.; Cowan, Tina M.; Aguilar, Miriam; Brown, C. Titus; and Bannasch, Danika L., "Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog" (2020). Veterinary Clinical Sciences Publications. 43.
https://lib.dr.iastate.edu/vcs_pubs/43
Included in
Animal Diseases Commons, Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Genomics Commons, Small or Companion Animal Medicine Commons, Veterinary Pathology and Pathobiology Commons
Comments
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.