Peer-reviewed veterinary case report
Deafness and balance problems in Doberman puppy linked to gene
By Guevar, Julien et al.·Published in Journal of veterinary internal medicine·2018·School of Veterinary Medicine·View original on PubMed →
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Original publication title: Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene.
- Species:
- dog
Plain-English summary
A Doberman Pinscher puppy was found to have hearing loss and balance issues due to a genetic mutation in the PTPRQ gene. This condition is congenital, meaning it was present at birth, and is linked to both deafness and vestibular dysfunction (problems with balance). Researchers identified this mutation through genetic testing, which showed that it affects the puppy's ability to hear and maintain balance. Unfortunately, there is no treatment to reverse the genetic condition, but understanding the cause can help owners manage their pet's needs better.
People also search for: Doberman puppy deafness · dog balance problems · congenital hearing loss in dogs
Abstract
BACKGROUND: A congenital syndrome of hearing loss and vestibular dysfunction affects Doberman Pinschers. Its inheritance pattern is suspected to be autosomal recessive and it potentially represents a spontaneous animal model of an autosomal recessive syndromic hearing loss. HYPOTHESIS/OBJECTIVES: The objectives of this study were to use whole genome sequencing (WGS) to identify deleterious genetic variants in candidate genes associated with the syndrome and to study the prevalence of candidate variants among a population of unaffected Doberman Pinschers. ANIMALS: One affected Doberman Pinscher and 202 unaffected Doberman Pinschers. METHODS: WGS of the affected dog with filtering of variants against a database of 154 unaffected dogs of diverse breeds was performed. Confirmation of candidate variants was achieved by Sanger sequencing followed by genotyping of the control population of unaffected Doberman Pinschers. RESULTS: WGS and variant filtering identified an alteration in a gene associated with both deafness and vestibular disease in humans: protein tyrosine phosphatase, receptor type Q (PTPRQ). There was a homozygous A insertion at CFA15: 22 989 894, causing a frameshift mutation in exon 39 of the gene. This insertion is predicted to cause a protein truncation with a premature stop codon occurring after position 2054 of the protein sequence that causes 279 C-terminal amino acids to be eliminated. Prevalence of the variant was 1.5% in a cohort of 202 unaffected Doberman Pinschers; all unaffected Doberman Pinschers were heterozygous or heterozygous for the reference allele. CONCLUSION AND CLINICAL IMPORTANCE: We report the identification of a genetic alteration on the PTPRQ gene that is associated with congenital hearing and vestibular disorder in a young Doberman Pinscher dog.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29460419/