Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats.

ABSTRACT:

Background

Primary congenital hypothyroidism (CH) is a rare endocrine disorder in cats with a largely unknown genetic cause.

Objectives

Describe the clinical presentation of CH in 11 affected cats and identify the causal genetic variant.

Animals

Eleven CH-cats from 10 unrelated families, 11 CH-free family members, 21 unrelated CH-free cats, and 155 unrelated nondiagnosed cats from different breeds.

Methods

Case control study of CH-cats and their siblings (2019-2021). Diagnosis was based on low to low-normal serum thyroxine (T4) concentrations, high thyroid-stimulating hormone (TSH) concentrations and clinical signs compatible with CH. We identified the causal variant using Sanger sequencing, genotyping via PCR-RFLP and variant interpretation using ACMG/AMP guid

SUBMITTER: Van Poucke M 

PROVIDER: S-EPMC9511070 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature