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Article

Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism.

Clinical genetics - 1 Oct 2025

Xu Shiyi, Gao Jiaying, Lin Qiuting, Liu Hui

Abstract excerpt

Thyroid peroxidase (TPO) gene mutations have been reported as the most commonly reported pathogenic variants in congenital hypothyroidism (CH) caused by thyroid hormone (TH) synthesis disorders, the significance of some mutations remains unclear. The study analyzed 54 children diagnosed with CH who underwent whole-exome sequencing (WES). Functional analysis of the TPO p.K78Q variant, a novel variant of uncertain...

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Identifiers

PMID: 40223682
DOI: 10.1111/cge.14754

Genes

TPO
TH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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