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Article

Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic DUOX2 mutations.

Clinical endocrinology - 1 Sept 2015

Abe Kiyomi, Narumi Satoshi, Suwanai Ayuko S, Hamajima Takashi, Hasegawa Tomonobu

Abstract excerpt

OBJECTIVES: Mutations in the dual oxidase 2 gene (DUOX2) is the most common genetic cause of congenital hypothyroidism (CH) in Japan. All previously described DUOX2 mutation-carrying families have followed autosomal recessive inheritance. We report a nonconsanguineous Japanese family harbouring biallelic DUOX2 mutations, which presented an apparently dominant inheritance of nonautoimmune hypothyroidism. DESIGN...

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Source

Identifiers

PMID: 25263060
DOI: 10.1111/cen.12622

Genes

DUOX2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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