OMIA 002148-9615 : Deafness and vestibular dysfunction in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 617663 , 613391

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

Species-specific name: DINGS

Molecular basis: Guvear et al. (2018): "WGS [whole-genome sequencing of one affected dog] and variant filtering [against 154 normal dogs] 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 Cā€terminal amino acids to be eliminated. "

Prevalence: Guevar et al. (2018): "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."

Breed: Doberman Pinscher.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PTPRQ protein tyrosine phosphatase, receptor type, Q Canis lupus familiaris 15 NC_006597.3 (22771653..23017694) PTPRQ Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Doberman Pinscher Deafness and vestibular dysfunction PTPRQ insertion, small (<=20) CanFam3 15 g.22989894insA p.Asn2032LysfsTer24 2018 29460419

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Guevar, J., Olby, N.J., Meurs, K.M., Yost, O., Friedenberg, S.G. :
Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. J Vet Intern Med 32:665-669, 2018. Pubmed reference: 29460419. DOI: 10.1111/jvim.15060.
2012 Strain, G.M. :
Canine deafness. Vet Clin North Am Small Anim Pract 42:1209-24, 2012. Pubmed reference: 23122177. DOI: 10.1016/j.cvsm.2012.08.010.
1992 Wilkes, M.K., Palmer, A.C. :
Congenital Deafness and Vestibular Deficit in the Dobermann Journal of Small Animal Practice 33:218-224, 1992.

Edit History


  • Created by Frank Nicholas on 19 Apr 2018
  • Changed by Frank Nicholas on 19 Apr 2018