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Hereditary Deafness PTPRQ Gene (Dobermann Type)
Test Overview:
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.
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
PTPRQ
Variant Detected:
g.22989894insA
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive with Incomplete Penetrance
Research Citation(s):
https://www.ncbi.nlm.nih.gov/pubmed/29460419
J Vet Intern Med. 2018 Mar;32(2):665-669
Associated Breed(s):
Dobermann,
