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Article

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects Only in the Presence of PAX8.

Thyroid : official journal of the American Thyroid Association - 1 Aug 2018

Shinohara Hiroyuki, Takagi Masaki, Ito Kimiko, Shimizu Eri, Fukuzawa Ryuji, Hasegawa Tomonobu

Abstract excerpt

To date, >100 mutations in NKX2-1 have been described. Most NKX2-1 mutations are assumed to result in brain-lung-thyroid syndrome through haploinsufficiency, and only five NKX2-1 mutations with dominant-negative effects have been reported so far. In this case report, an additional patient with brain-lung-thyroid syndrome is reported, carrying a novel heterozygous mutation, c.533G>C (p.R178P), in the homeobox of...

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Source

Identifiers

PMID: 29882472
DOI: 10.1089/thy.2017.0481

Genes

PAX8

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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