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Article

Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.

European journal of endocrinology - 1 Nov 2012

Narumi Satoshi, Araki Shunsuke, Hori Naoaki, Muroya Koji, Yamamoto Yukiyo, Asakura Yumi, Adachi Masanori, Hasegawa Tomonobu

Abstract excerpt

BACKGROUND: Individuals carrying a heterozygous inactivating PAX8 mutation are affected by congenital hypothyroidism (CH), although heterozygous Pax8 knockout mice are not. It has remained unclear whether CH in PAX8 mutation carriers is caused by haploinsufficiency or a dominant negative mechanism. OBJECTIVE: To report clinical and molecular findings of four novel PAX8 mutations, including one early-truncating...

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Share to Congenital Hypothyroidism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22898500
DOI: 10.1530/EJE-12-0410

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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