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Hereditary Deafness PTPRQ Gene (Dobermann Type)

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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,

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