KEGG   VARIANT: 50506v1
Entry
50506v1                      Variant                               
Name
DUOX2 mutation
Gene
DUOX2  dual oxidase 2 [KO:K13411]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606759
Network
nt06322  TRH-TSH-TH signaling
Disease
H00251  Thyroid dyshormonogenesis
Reference
  Authors
Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S
  Title
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
  Journal
Thyroid 27:129-131 (2017)
DOI:10.1089/thy.2016.0469
Reference
  Authors
Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y
  Title
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
  Journal
J Clin Endocrinol Metab 93:4261-7 (2008)
DOI:10.1210/jc.2008-0856
Reference
  Authors
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C
  Title
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
  Journal
N Engl J Med 347:95-102 (2002)
DOI:10.1056/NEJMoa012752
Reference
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
Reference
  Authors
Targovnik HM, Citterio CE, Rivolta CM
  Title
Iodide handling disorders (NIS, TPO, TG, IYD).
  Journal
Best Pract Res Clin Endocrinol Metab 31:195-212 (2017)
DOI:10.1016/j.beem.2017.03.006
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