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
Open Access
- 1 February 2006
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 52 (2) , 182-191
- https://doi.org/10.1373/clinchem.2005.058321
Abstract
Background: Iodide organification defects are associated with mutations in the dual oxidase 2 (DUOX2) gene and are characterized by a positive perchlorate discharge test. These mutations produce a congenital goitrous hypothyroidism, usually transmitted in an autosomal recessive mode.Keywords
This publication has 34 references indexed in Scilit:
- Characterization of a Novel Loss of Function Mutation of PAX8 in a Familial Case of Congenital Hypothyroidism with In-Place, Normal-Sized ThyroidJournal of Clinical Endocrinology & Metabolism, 2004
- Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder EffectJournal of Clinical Endocrinology & Metabolism, 2004
- An Outline of Inherited Disorders of the Thyroid Hormone Generating SystemThyroid®, 2003
- Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyJournal of Clinical Investigation, 2002
- Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and miceJournal of Clinical Investigation, 2002
- Congenital Secondary Hypothyroidism Caused by Exon Skipping due to a Homozygous Donor Splice Site Mutation in the TSHβ-Subunit GeneJournal of Clinical Endocrinology & Metabolism, 2002
- A Novel Mutation (Q40P) in PAX8 Associated with Congenital Hypothyroidism and Thyroid Hypoplasia: Evidence for Phenotypic Variability in Mother and ChildJournal of Clinical Endocrinology & Metabolism, 2001
- Autosomal Dominant Transmission of Congenital Thyroid Hypoplasia Due to Loss-of-Function Mutation of PAX8Journal of Clinical Endocrinology & Metabolism, 2001
- Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresiaNature Genetics, 1998
- PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesisNature Genetics, 1998