Current Classification of Canine Muscular Dystrophies and Identification of New Variants

Author:

Shelton G.1ORCID,Minor Katie2ORCID,Friedenberg Steven3ORCID,Cullen Jonah3,Guo Ling1,Mickelson James2ORCID

Affiliation:

1. Department of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA

2. Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA

3. Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA

Abstract

The spectrum of canine muscular dystrophies has rapidly grown with the recent identification of several more affected breeds and associated mutations. Defects include those in genes and protein products associated with the sarcolemma (dystrophin deficient X-linked muscular dystrophy and sarcoglycan-deficient limb–girdle muscular dystrophy) and with the extracellular matrix (collagen 6, laminin α2, and α-dystroglycan-deficient congenital muscular dystrophies). With the increasing application of whole genome sequencing and whole exome sequencing, the clinical and pathological spectra associated with specific neuromuscular genetic defects are constantly evolving. In this report, we provide a brief overview of the current status of gene defects reported in canine muscular dystrophies. We also report the causative mutations for novel forms of X-linked muscular dystrophy in Brittany spaniels and in a French bulldog.

Funder

Division of Comparative Medicine, Office of Research Infrastructure Programs

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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