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Article

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.

International journal of molecular sciences - 2 Jan 2023

Li Menglin, Li Zhuo, Chen Miaomiao, Hu Zhiqing, Zhou Miaojin, Wu Lingqian, Zhang Chunhua, Liang Desheng

Abstract excerpt

Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder characterized by elevated concentrations of thyroid stimulating hormone (TSH) and low concentrations of free thyroxine (FT4). PAX8 and NKX2-1 are important transcription factors involved in thyroid development. In this study, we detected three novel variants in PAX8 (c.149A > C and c.329G > A) and NKX2-1 (c.706A > G) by whole exome...

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Identifiers

PMID: 36614229
DOI: 10.3390/ijms24010786
PMCID: PMC9821711

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