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

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 sulfates in the cells and secondary multiorgan 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.

Objectives

To characterize the clinical and biochemical phenotypes, and the genotype of a family of Golden Retriever dogs.

Animals

Two affected siblings and 11 related dogs.

Methods

Family study. Urine metabolic screening and leucocyte lysosomal enzyme activity assays were performed for biochemical characterization. Whole genome sequencing was used to identify the causa

SUBMITTER: Faller KME 

PROVIDER: S-EPMC7517864 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature