Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.

Thyroid : official journal of the American Thyroid Association - 1 May 2008

Ohye Hidemi, Fukata Shuji, Hishinuma Akira, Kudo Takumi, Nishihara Eijun, Ito Mitsuru, Kubota Sumihisa, Amino Nobuyuki, Ieiri Tamio, Kuma Kanji, Miyauchi Akira

Abstract excerpt

OBJECTIVE: To describe the first adult case of large goiter associated with a novel R1110Q mutation in the dual oxidase 2 (DUOX2) gene. She was initially euthyroid, and developed hypothyroidism later in her forties. DUOX2 is an essential enzyme in iodine organification of thyroid hormone biosynthesis. Only infant cases of congenital hypothyroidism due to mutations of the DUOX2 gene have been reported. Biallelic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dual Oxidases

Share to Goiter

Share to Mutation, Missense

Share to NADPH Oxidases

Share to Pedigree

Share to Thyroxine

Source

Identifiers

PMID: 18426362
DOI: 10.1089/thy.2007.0258

Genes

DUOX2
TPO

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.PMID 18426362Read ↗

Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland.Semantic proximity Read ↗

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.Semantic proximity Read ↗

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.Semantic proximity Read ↗

Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.Semantic proximity Read ↗

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.Semantic proximity Read ↗

Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.Semantic proximity Read ↗

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.Semantic proximity Read ↗

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.Semantic proximity Read ↗

Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.Semantic proximity Read ↗

Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.Semantic proximity Read ↗

Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.Semantic proximity Read ↗

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.