SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain.

ABSTRACT:

Background

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain. Three different associated variants have been identified in dogs: 1 in Border Collies, 1 in mixed breed dogs, and 1 in Spaniels and Pointers.

Objectives

To clinically and genetically characterize CIP in a family of mixed breed dogs.

Animals

Two mixed breed dogs from the same litter were independently presented: 1 for evaluation of painless fractures, and the other for chronic thermal skin injuries.

Methods

Physical, neurological, and histopathological evaluations were performed. Whole genome sequencing of 1 affected dog was used to identify homozygous protein-changing variants that were

SUBMITTER: Gutierrez-Quintana R 

PROVIDER: S-EPMC9889608 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature