Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.

ABSTRACT:

Background

Human patients with Ehlers-Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common subtype in people but is poorly characterized in dogs.

Objective

Describe likely causal COL5A1 variants in dogs with classical EDS, summarize clinical histories, discuss potential disease mechanisms, and draw conclusions about disease prognosis.

Animals

Seven client-owned dogs that exhibited clinical signs of classical EDS.

Methods

Clinical information was recorded from medical records and communication with attending veterinarians and dog owners. To identify potential causal gene sequence variants whole-genome sequence analyses

SUBMITTER: Bullock G 

PROVIDER: S-EPMC11423452 | biostudies-literature | 2024 Sep-Oct

REPOSITORIES: biostudies-literature