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

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

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

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 NKX2-1. This mutation has been proven to be a dominant-negative mutation by an in vitro functional assay. Of note, the dominant-negative effect of R178P-NKX2-1 was shown only in the presence of PAX8.

Original languageEnglish
Pages (from-to)1071-1073
Number of pages3
JournalThyroid
Volume28
Issue number8
DOIs
Publication statusPublished - 2018 Aug 1

Keywords

  • brain-lung-thyroid syndrome
  • dominant-negative effect
  • NKX2-1
  • PAX8

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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