A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type 1

Kiterie Faller, Alison Ridyard, R Gutierrez-Quintana, Angie Rupp, Celia Kun-Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose M. Bras

Research output: Contribution to journalArticlepeer-review

Abstract

Abstract
Background: Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder caused by a deficiency of the enzyme α-L-iduronidase, leading to accumulation of undegraded dermatan and heparan sulphates in the cells and secondary multi-organ dysfunction. In humans, depending upon the nature of the underlying mutation(s) in the IDUA gene, the condition presents with a spectrum of clinical severity.
Hypothesis/Objectives: To characterise the clinical and biochemical phenotypes, and the genotype of a family of Golden Retriever dogs.
Animals: Two affected siblings and 11 related dogs.
Original languageEnglish
JournalJournal of Veterinary Internal Medicine
Early online date12 Aug 2020
DOIs
Publication statusE-pub ahead of print - 12 Aug 2020

Keywords

  • lysosomal storage disease
  • iduronidase
  • Hurler
  • Scheie

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