{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["36(5)"],"submitter":["Van Poucke M"],"pubmed_abstract":["<h4>Background</h4>Primary congenital hypothyroidism (CH) is a rare endocrine disorder in cats with a largely unknown genetic cause.<h4>Objectives</h4>Describe the clinical presentation of CH in 11 affected cats and identify the causal genetic variant.<h4>Animals</h4>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.<h4>Methods</h4>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"],"journal":["Journal of veterinary internal medicine"],"pagination":["1597-1606"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9511070"],"repository":["biostudies-literature"],"pubmed_title":["Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats."],"pmcid":["PMC9511070"],"pubmed_authors":["van den Berg MF","Peelman LJ","Daminet S","Stock E","Van Renterghem E","Van Poucke M","Peterson ME"],"additional_accession":[]},"is_claimable":false,"name":"Association of recessive c.430G>A (p.(Gly144Arg)) thyroid peroxidase variant with primary congenital hypothyroidism in cats.","description":"<h4>Background</h4>Primary congenital hypothyroidism (CH) is a rare endocrine disorder in cats with a largely unknown genetic cause.<h4>Objectives</h4>Describe the clinical presentation of CH in 11 affected cats and identify the causal genetic variant.<h4>Animals</h4>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.<h4>Methods</h4>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","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-31T15:57:13.332Z","creation":"2025-04-04T12:45:43.671Z"},"accession":"S-EPMC9511070","cross_references":{"pubmed":["36054182"],"doi":["10.1111/jvim.16524"]}}