High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands

Hormone Research in Paediatrics

Volumn 82, Issue 4, 2014, Pages 252-260

  Jin, Hye Young ^a   Heo, Sun Hee ^b   Kim, Yoo Mi ^a   Kim, Gu Hwan ^c   Choi, Jin Ho ^a   Lee, Beom Hee ^a   Yoo, Han Wook ^a  

^a University of Ulsan   (South Korea)

^b Genome Research Center for Birth Defects and Genetic Disorders   (South Korea)

^c University of Ulsan College of Medicine   (South Korea)

Author keywords

Congenital hypothyroidism; DUOX2; Dyshormonogenesis

Indexed keywords

DUAL OXIDASE 2; OXIDOREDUCTASE; THYROGLOBULIN; THYROID PEROXIDASE; THYROTROPIN RECEPTOR; UNCLASSIFIED DRUG; DUOX2 PROTEIN, HUMAN; IODIDE PEROXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; THYROXINE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; DISEASE ASSOCIATION; EUTOPIC THYROID GLAND; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; FUNCTIONAL STATUS; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN SCREENING; PERMANENT CONGENITAL HYPOTHYROIDISM; PHENOTYPE; PREDICTION; THYROID DYSGENESIS; THYROID FUNCTION; THYROID WEIGHT; THYROTROPIN BLOOD LEVEL; TRANSIENT CONGENITAL HYPOTHYROIDISM; COHORT ANALYSIS; GENETICS; GENOTYPE; INFANT; MISSENSE MUTATION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; THYROID GLAND;

CHILD, PRESCHOOL; COHORT STUDIES; CONGENITAL HYPOTHYROIDISM; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; IODIDE PEROXIDASE; MALE; MUTATION, MISSENSE; NADPH OXIDASE; RECEPTORS, THYROTROPIN; THYROGLOBULIN; THYROID GLAND; THYROXINE;

EID: 84911991729     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000362235     Document Type: Article

References (25)

1. Rastogi MV, LaFranchi SH: Congenital hypothyroidism. Orphanet J Rare Dis 2010; 5: 17.
2. Park SM, Chatterjee VK: Genetics of congenital hypothyroidism. J Med Genet 2005; 42: 379-389.
3. Grasberger H, Refetoff S: Genetic causes of congenital hypothyroidism due to dyshormonogenesis. Curr Opin Pediatr 2011; 23: 421-428.
4. Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ: Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab 2000; 85: 3708-3712.
5. Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K, Harada S, Kitanaka S, Takamatsu J, Kiwaki K, Ohye H, Uruno T, Tomoda C, Tajima T, Kuma K, Miyauchi A, Ieiri T: Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. J Clin Endocrinol Metab 2006; 91: 3100-3104.
6. Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G, Persani L: A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism. Clin Endocrinol (Oxf) 2009; 71: 739-745.
7. Narumi S, Muroya K, Asakura Y, Aachi M, Hasegawa T: Molecular basis of thyroid dyshormonogenesis: genetic screening in population- based Japanese patients. J Clin Endocrinol Metab 2011; 96:E1838-E1842.
8. Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y: Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. J Clin Endocrinol Metab 2008; 93: 4261- 4267.
9. Tonacchera M, De Marco G, Agretti P, Montanelli L, Di Cosmo C, Freitas Ferreira AC, Dimida A, Ferrarini E, Ramos HE, Ceccarelli C, Brozzi F, Pinchera A, Vitti P: 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. J Clin Endocrinol Metab 2009; 94: 4309-4314.
10. Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T: TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. J Clin Endocrinol Metab 2009; 94: 1317-1323.
11. De Marco G, Agretti P, Montanelli L, Di Cosmo C, Bagattini B, De Servi M, Ferrarini E, Dimida A, Freitas Ferreira AC, Molinaro A, Ceccarelli C, Brozzi F, Pinchera A, Vitti P, Tonacchera M: Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. J Clin Endocrinol Metab 2011; 96:E1335-E1339.
12. Grasberger H, De Deken X, Miot F, Pohlenz J, Refetoff S: Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. Mol Endocrinol 2007; 21: 1408-1421.
13. 2 -generating enzyme DUOX2 associated with transient congenital hypothyroidism. Hum Mutat 2010; 31:E1304-E1319.
14. Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C: Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 2002; 347: 95-102.
15. Vigone MC, Fugazzola L, Zamproni I, Passoni A, Di Candia S, Chiumello G, Persani L, Weber G: Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Hum Mutat 2005; 26: 395.
16. Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S: The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype- phenotype correlation. J Clin Endocrinol Metab 2011; 96:E1001-E1006.
17. Yasumoto M, Inoue H, Ohashi I, Shibuya H, Onishi T: Simple new technique for sonographic measurement of the thyroid in neonates and small children. J Clin Ultrasound 2004; 32: 82-85.
18. Takashima S, Nomura N, Tanaka H, Itoh Y, Miki K, Harada T: Congenital hypothyroidism: assessment with ultrasound. AJNR Am J Neuroradiol 1995; 16: 1117-1123.
19. Srinivasan R, Harigopal S, Turner S, Cheetham T: Permanent and transient congenital hypothyroidism in preterm infants. Acta Paediatr 2012; 101:e179-e182.
20. Surks MI, Ortiz E, Daniels GH, Sawin CT, Col NF, Cobin RH, Franklyn JA, Hershman JM, Burman KD, Denke MA, Gorman C, Cooper RS, Weissman NJ: Subclinical thyroid disease: scientific review and guidelines for diagnosis and management. JAMA 2004; 291: 228-238.
21. Camilot M, Teofoli F, Gandini A, Franceschi R, Rapa A, Corrias A, Bona G, Radetti G, Tato L: Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Clin Endocrinol (Oxf) 2005; 63: 146-151.
22. Grasberger H, Refetoff S: Identification of the maturation factor for dual oxidase. Evolution of a eukaryotic operon equivalent. J Biol Chem 2006; 281: 18269-18272.
23. Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW, Ki CS: Molecular screening of the TSH receptor and thyroid peroxidase genes in Korean patients with non-syndromic congenital hypothyroidism. Clin Endocrinol (Oxf) 2011; 75: 715- 721.
24. Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T: Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab 2010; 95: 1981-1985.
25. Grasberger H: Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. Mol Cell Endocrinol 2010; 322: 99- 106.