Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant.

ABSTRACT:

Background

Hereditary sensory and autonomic neuropathies (HSANs) are a group of genetic disorders affecting the peripheral nervous system. Two different associated variants have been identified in dogs: 1 in Border Collies and 1 in Spaniels and Pointers.

Objectives

Clinically and genetically characterize HSAN in a family of mixed breed dogs.

Animals

Five 7-month-old mixed breed dogs from 2 related litters were presented for evaluation of a 2-month history of acral mutilation and progressive pelvic limb gait abnormalities.

Methods

Complete physical, neurological, electrodiagnostic, and histopathological evaluations were performed. Whole genome sequencing of 2 affected dogs (1 from each litter) was used to identify variants that were homozygous or heterozygous in

SUBMITTER: Gutierrez-Quintana R 

PROVIDER: S-EPMC8478055 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature