Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.

ABSTRACT:

Background

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders occurring in both human and veterinary patients. The genetics of these disorders are poorly described in small animal patients.

Hypothesis/objectives

Define the clinical manifestations and genetic cause of a suspected form of EDS in a cat.

Animals

A 14-week-old male domestic medium hair cat was presented with skin hyperextensibility and fragility. The classic tragic facial expression was observed as well as chronic pruritus and mild hyperesthesia.

Methods

Blood samples and a skin biopsy sample were collected from the affected cat. Clinical examinations, histology, electron microscopy and whole genome sequencing were conducted to characterize the clinical

SUBMITTER: McElroy A 

PROVIDER: S-EPMC10473008 | biostudies-literature | 2023 Sep-Oct

REPOSITORIES: biostudies-literature