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Article

Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2016

Ma Shao-Gang, Zheng Xiao, Qiu Ya-Li, Guo Man-Li, Shao Xiao-Juan

Abstract excerpt

BACKGROUND: The objective of the study was to determine the genetic basis of goitrous congenital hypothyroidism (GCH) in Chinese siblings. METHODS: The proband and her younger brother with GCH were enrolled for molecular analysis of the dual oxidase 2 (DUOX2), dual oxidase maturation factor 2 (DUOXA2), and thyroid peroxidase (TPO) genes. Mutation screening was performed by Sanger sequencing the fragments...

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Source

Identifiers

PMID: 27135621
DOI: 10.1515/jpem-2015-0383

Genes

TPO
DUOX2
DUOXA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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