OMIA 002196-9615 : Deafness, unilateral and vestibular dysfunction in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613391 (trait) , 617663 (trait) , 603317 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2018

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 C‐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."

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_051819.1 (23131808..23378520) PTPRQ Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
988 Doberman Pinscher Deafness, unilateral and vestibular dysfunction PTPRQ insertion, small (<=20) Naturally occurring variant CanFam3.1 15 g.22989897_22989898insA c.9230_9231insA p.(N3077Kfs*24) XM_022428131.1; XP_022283839.1; published as an A insertion at CFA15: 22 989 894 and p.(N2032Kfs*24) based on ENSCAFT00000009346.4 - renamed due to HGVS 3'rule and RefSeq IDs 2018 29460419

Reference


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.

Edit History


  • Created by Frank Nicholas on 22 May 2019
  • Changed by Frank Nicholas on 22 May 2019