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Article

Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism.

BioMed research international - 1 Jan 2014

Lee Ching Chin, Harun Fatimah, Jalaludin Muhammad Yazid, Lim Chor Yin, Ng Khoon Leong, Mat Junit Sarni

Abstract excerpt

The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Malaysian-Chinese sisters with goitrous CH. Normal and alternatively spliced TPO mRNA transcripts were present in...

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Source

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Identifiers

PMID: 24745015
DOI: 10.1155/2014/370538
PMCID: PMC3976875

Genes

TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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