{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:52:02Z","timestamp":1773276722779,"version":"3.50.1"},"reference-count":20,"publisher":"Japan Endocrine Society","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2017]]},"DOI":"10.1507\/endocrj.ej16-0564","type":"journal-article","created":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T22:09:06Z","timestamp":1497564546000},"page":"807-812","source":"Crossref","is-referenced-by-count":12,"title":["Homozygous &lt;i&gt;DUOXA2&lt;\/i&gt; mutation (p.Tyr138&lt;sup&gt;*&lt;\/sup&gt;) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature"],"prefix":"10.1507","volume":"64","author":[{"given":"Chiho","family":"Sugisawa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Department of Internal Medicine, Showa University Fujigaoka Hospital, Yokohama 227-8501, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Higuchi","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Tokyo Metropolitan Children&rsquo;s Medical Center, Tokyo 183-8561, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Takagi","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Tokyo Metropolitan Children&rsquo;s Medical Center, Tokyo 183-8561, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism, Tokyo Metropolitan Children&rsquo;s Medical Center, Tokyo 183-8561, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matsuo","family":"Taniyama","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Showa University Fujigaoka Hospital, Yokohama 227-8501, Japan"},{"name":"Tokyo Health Service Association, Tokyo 162-8402, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyomi","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Narumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"key":"1","unstructured":"1. Grasberger H, Refetoff S (2006) Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. <i>J Biol Chem<\/i> 281: 18269-18272."},{"key":"2","unstructured":"2. De Deken X, Wang D, Many MC, Costagliola S, Libert F, <i>et al<\/i>. (2000) Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. <i>J Biol Chem<\/i> 275: 23227-23233."},{"key":"3","unstructured":"3. Pachucki J, Wang D, Christophe D, Miot F (2004) Structural and functional characterization of the two human ThOX\/Duox genes and their 5\u2032-flanking regions. <i>Mol Cell Endocrinol<\/i> 214: 53-62."},{"key":"4","unstructured":"4. Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, <i>et al<\/i>. (2002) Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. <i>N Engl J Med<\/i> 347: 95-102."},{"key":"5","unstructured":"5. Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, <i>et al<\/i>. (2008) Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. <i>J Clin Endocrinol Metab<\/i> 93: 605-610."},{"key":"6","unstructured":"6. Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, <i>et al<\/i>. (2008) Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. <i>J Clin Endocrinol Metab<\/i> 93: 4261-4267."},{"key":"7","unstructured":"7. Moreno JC, Visser TJ (2007) New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. <i>Endocr Dev<\/i> 10: 99-117."},{"key":"8","unstructured":"8. Hulur I, Hermanns P, Nestoris C, Heger S, Refetoff S, <i>et al<\/i>. (2011) A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion. <i>J Clin Endocrinol Metab<\/i> 96: E841-845."},{"key":"9","unstructured":"9. Yi RH, Zhu WB, Yang LY, Lan L, Chen Y, <i>et al<\/i>. (2013) A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. <i>Int J Mol Med<\/i> 31: 467-470."},{"key":"10","unstructured":"10. Liu S, Liu L, Niu X, Lu D, Xia H, <i>et al<\/i>. (2015) A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression. <i>J Clin Endocrinol Metab<\/i> 100: 1225-1229."},{"key":"11","unstructured":"11. Fuse Y, Saito N, Tsuchiya T, Shishiba Y, Irie M (2007) Smaller thyroid gland volume with high urinary iodine excretion in Japanese schoolchildren: normative reference values in an iodine-sufficient area and comparison with the WHO\/ICCIDD reference. <i>Thyroid<\/i> 17: 145-155."},{"key":"12","unstructured":"12. Yasumoto M, Inoue H, Ohashi I, Shibuya H, Onishi T (2004) Simple new technique for sonographic measurement of the thyroid in neonates and small children. <i>J Clin Ultrasound<\/i> 32: 82-85."},{"key":"13","unstructured":"13. Yoshizawa-Ogasawara A, Ogikubo S, Satoh M, Narumi S, Hasegawa T (2013) Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. <i>J Pediatr Endocrinol Metab<\/i> 26: 45-52."},{"key":"14","unstructured":"14. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. <i>Bioinformatics<\/i> 25: 1754-1760."},{"key":"15","unstructured":"15. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, <i>et al<\/i>. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. <i>Genome Res<\/i> 20: 1297-1303."},{"key":"16","unstructured":"16. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. <i>Nucleic Acids Res<\/i> 38: e164."},{"key":"17","unstructured":"17. Narumi S, Muroya K, Asakura Y, Aachi M, Hasegawa T (2011) Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. <i>J Clin Endocrinol Metab<\/i> 96: E1838-1842."},{"key":"18","unstructured":"18. Morand S, Ueyama T, Tsujibe S, Saito N, Korzeniowska A, <i>et al<\/i>. (2009) Duox maturation factors form cell surface complexes with Duox affecting the specificity of reactive oxygen species generation. <i>FASEB J<\/i> 23: 1205-1218."},{"key":"19","unstructured":"19. Moreno JC, Pauws E, van Kampen AH, Jedlickova M, de Vijlder JJ, <i>et al<\/i>. (2001) Cloning of tissue-specific genes using serial analysis of gene expression and a novel computational substraction approach. <i>Genomics<\/i> 75: 70-76."},{"key":"20","unstructured":"20. Vigone MC, Fugazzola L, Zamproni I, Passoni A, Di Candia S, <i>et al<\/i>. (2005) Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. <i>Hum Mutat<\/i> 26: 395."}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/64\/8\/64_EJ16-0564\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,9,2]],"date-time":"2017-09-02T06:02:20Z","timestamp":1504332140000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/64\/8\/64_EJ16-0564\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej16-0564","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}