The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany

Bart J G Broeckx,Dieter Deforce,Jimmy H Saunders,Sandra S A Soetaert,Tim Bosmans,Katleen Van Steendam,Elien Verelst,Henri Van Bree,Bernadette Van Ryssen,Wim Van Haeringen,Frank Coopman,Geert E C Verhoeven,Leanne Van De Goor,Ingrid Gielen,Christophe Van Neste,Filip Van Nieuwerburgh,Claire Wade

doi:10.1371/journal.pone.0074811

Bart J G Broeckx, Dieter Deforce + Show 15 more

Open Access

https://doi.org/10.1371/journal.pone.0074811

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Abstract

The objective of this study was to screen a dog population from Belgium, the Netherlands and Germany for the presence of mutant alleles associated with hip dysplasia (HD), degenerative myelopathy (DM), exercise-induced collapse (EIC), neuronal ceroid lipofuscinosis 4A (NCL), centronuclear myopathy (HMLR), mucopolysaccharidosis VII (MPS VII), myotonia congenita (MG), gangliosidosis (GM1) and muscular dystrophy (Duchenne type) (GRMD). Blood samples (K3EDTA) were collected for genotyping with Kompetitive Allele Specific PCR (n = 476). Allele and genotype frequencies were calculated in those breeds with at least 12 samples (n = 8). Hardy-Weinberg equilibrium was tested. Genetic variation was identified for 4 out of 9 disorders: mutant alleles were found in 49, 15, 3 and 2 breeds for HD, DM, EIC and NCL respectively. Additionally, mutant alleles were identified in crossbreeds for both HD and EIC. For HD, DM, EIC and NCL mutant alleles were newly discovered in 43, 13, 2 and 1 breed(s), respectively. In 9, 2 and 1 breed(s) for DM, EIC and NCL respectively, the mutant allele was detected, but the respective disorder has not been reported in those breeds. For 5 disorders (HMLR, MPS VII, MG, GM1, GRMD), the mutant allele could not be identified in our population. For the other 4 disorders (HD, DM, EIC, NCL), prevalence of associated mutant alleles seems strongly breed dependent. Surprisingly, mutant alleles were found in many breeds where the disorder has not been reported to date.

Highlights

The reduction of genetic disorders remains an important goal for both veterinarians and breeders [1]
This study reports on the prevalence of mutant alleles associated with 9 canine genetic disorders (Table 1) that influence the neuronal and/or musculoskeletal system: hip dysplasia (HD), degenerative myelopathy (DM), exercise-induced collapse (EIC), neuronal ceroid lipofuscinosis 4A (NCL), centronuclear myopathy (HMLR), mucopolysaccharidosis VII (MPS VII), myotonia congenita (MG), gangliosidosis (GM1) and muscular dystrophy (Duchenne type) (GRMD))
The mutant alleles for HD and EIC were identified in mixed breed dogs

Summary

Introduction

The reduction of genetic disorders remains an important goal for both veterinarians and breeders [1]. It is the responsibility of the scientific community to provide detailed information regarding the existence, application and importance of diagnostic genetic tests that have been developed [1,2,3]. An important step in this process is to evaluate the prevalence of disorders and mutant alleles in the population. This information is needed to provide proper breeding advice. The presence of mutant alleles in different breeds with each having their specific genetic background, might provide interesting (clinical) information for both the animal and human population as many canine disorders are animal models for human genetic disorders

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