{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T09:18:32Z","timestamp":1761988712611,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,5,19]],"date-time":"2014-05-19T00:00:00Z","timestamp":1400457600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81170812"],"award-info":[{"award-number":["81170812"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Science and Technology Project by Shandong Provincial Population and Family Planning Commission"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2014,9]]},"abstract":"Summary<\/jats:title>Objective<\/jats:title>The aim of this study was to screen for DUOX<\/jats:styled-content>2<\/jats:italic>, TPO<\/jats:styled-content><\/jats:italic> and TG<\/jats:styled-content><\/jats:italic> mutations in Chinese patients with congenital hypothyroidism (CH<\/jats:styled-content>) and goitre and to define the relationships between DUOX<\/jats:styled-content>2<\/jats:italic> genotypes and clinical phenotypes.<\/jats:p><\/jats:sec>Methods<\/jats:title>Blood samples were collected from 67 patients with CH<\/jats:styled-content> and goitre in Shandong Province, China. Genomic DNA<\/jats:styled-content> was extracted from peripheral blood leucocytes. PCR<\/jats:styled-content> and direct sequencing were used to analyse all exons of DUOX<\/jats:styled-content>2<\/jats:italic>, TPO<\/jats:styled-content><\/jats:italic> and TG<\/jats:styled-content><\/jats:italic>. Detailed medical records were then collected, and the relationship between DUOX<\/jats:styled-content>2<\/jats:italic> genotype and the clinical phenotype of CH<\/jats:styled-content> and goitre caused by DUOX<\/jats:styled-content>2<\/jats:italic> mutations was investigated.<\/jats:p><\/jats:sec>Results<\/jats:title>Analysis of DUOX<\/jats:styled-content>2<\/jats:italic> revealed nine mutations, including one novel nonsense mutation (p.W734X), six novel missense mutations (p.N100D, p.S660L, p.A1131S, p.W1181G, p.A1206T and p.R1267W) and two recurrent mutations (p.R701X and p.R1110Q) in 10 patients from 10 unrelated families. Monoallelic and compound heterozygous mutations in DUOX<\/jats:styled-content>2<\/jats:italic> were associated with permanent or transient CH<\/jats:styled-content>. No mutation was found after screening all exons of TPO<\/jats:styled-content><\/jats:italic> and TG<\/jats:styled-content><\/jats:italic>.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our study identified DUOX<\/jats:styled-content>2<\/jats:italic> mutations in 14\u00b79% of Chinese patients investigated with CH<\/jats:styled-content> and goitre. Because the relationships between DUOX<\/jats:styled-content>2<\/jats:italic> genotypes and clinical phenotypes are extremely complex, however, further studies are needed to identify more mutations in known genes which are involved in CH<\/jats:styled-content> and goitre.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12469","type":"journal-article","created":{"date-parts":[[2014,4,16]],"date-time":"2014-04-16T08:12:55Z","timestamp":1397635975000},"page":"452-457","source":"Crossref","is-referenced-by-count":35,"title":["Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes"],"prefix":"10.1111","volume":"81","author":[{"given":"Fang","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Endocrinology The Affiliated Hospital of Medical College Qingdao University Qingdao 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China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liqin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center of Neonatal screening Qingdao Maternal and Child Health Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiguo","family":"Liu","sequence":"additional","affiliation":[{"name":"Shandong Provincial Key Laboratory of Metabolic Disease Qingdao China"},{"name":"Genetic Laboratory The Affiliated Hospital of Medical College Qingdao University Qingdao China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengli","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology The Affiliated Hospital of Medical College Qingdao University Qingdao 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