Six New Mutations of the Thyroglobulin Gene Discovered in Taiwanese Children Presenting with Thyroid Dyshormonogenesis

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 12, 2009, Pages 5045-5052

  Niu, Dau Ming ^a,b   Hsu, Ju Hui ^b   Chong, Kah Wai ^a   Huang, Cheng Hung ^b   Lu, Yung Hsiu ^b   Kao, Chuan Hong ^b   Yu, Hsiao Chi ^b   Lo, Ming Yu ^b   Jap, Tjin Shing ^b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; MESSENGER RNA; POTASSIUM PERCHLORATE; SODIUM IODIDE I 131; THYROGLOBULIN; THYROTROPIN; THYROXINE;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HYPOTHYROIDISM; DRUG UPTAKE; EXON; FAMILY; FEMALE; FOUNDER EFFECT; GENE MUTATION; HAPLOTYPE; HUMAN; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; THYROID DISEASE; THYROID DYSHORMONOGENESIS; THYROTROPIN BLOOD LEVEL;

EID: 73249114511     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0646     Document Type: Article

References (52)

1. Refetoff S, Dumont J, Vassart G 2001 Thyroid disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: MacGraw-Hill; 4029-4075
2. Dai G, Levy O, Carrasco N 1996 Cloning and characterization of the thyroid iodide transporter. Nature 379:458-460
3. Fujiwara H, Tatsumi K, Miki K, Harada T, Okada S, Nose O, Kodama S, Amino N 1998 Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect. J Clin Endocrinol Metab 83:2940-2943
4. Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G 1991 A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 88:1901-1905
5. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED 1997 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422
6. Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G 1992 Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest 90:1200-1204
7. Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 347:95-102
8. Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ 2008 Mutations in the iodotyrosine deiodinase gene and hypothyroidism. N Engl J Med 358:1811-1818
9. Medeiros-Neto G, Targovnik HM, Vassart G 1993 Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 14:165-183
10. Rivolta CM, Targovnik HM 2006 Molecular advances in thyroglobulin disorders. Clin Chim Acta 374:8-24
11. Lamas L, Anderson PC, Fox JW, Dunn JT 1989 Consensus sequences for early iodination and hormonogenesis in human thyroglobulin. J Biol Chem 264:13541-13545
12. Mendive FM, Rivolta CM, Moya CM, Vassart G, Targovnik HM 2001 Genomic organization of the human thyroglobulin gene: the complete intron-exon structure. Eur J Endocrinol 145:485-496
13. Corral J, Martín C, Pérez R, Sánchez I, Mories MT, San Millan JL, Miralles JM, González-Sarmiento R 1993 Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet 341:462-464
14. Pérez-Centeno C, González-Sarmiento R, Mories MT, Corrales JJ, Miralles-García JM 1996 Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter. Thyroid 6:423-427
15. Alzahrani AS, Baitei EY, Zou M, Shi Y 2006 Metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene. J Clin Endocrinol Metab 91:740-746
16. Hishinuma A, Fukata S, Kakudo K, Murata Y, Ieiri T 2005 High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 15:1079-1084
17. 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 2006 Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. J Clin Endocrinol Metab 91:3100-3104
18. Ban Y, Greenberg DA, Concepcion E, Skrabanek L, Villanueva R, Tomer Y 2003 Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci USA 100:15119-15124
19. Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G 1993 A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 77:210-215
20. Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G 1995 A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J Clin Endocrinol Metab 80:3356-3360
21. van de Graaf SA, Ris-Stalpers C, Veenboer GJ, Cammenga M, Santos C, Targovnik HM, de Vijlder JJ, Medeiros-Neto G 1999 A premature stop codon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. J Clin Endocrinol Metab 84:2537-2542
22. van de Graaf SA, Cammenga M, Ponne NJ, Veenboer GJ, Gons MH, Orgiazzi J, de Vijlder JJ, Ris-Stalpers C 1999 The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism. Biochimie 81:425-432
23. Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. J Clin Endocrinol Metab 84:1438-1444
24. Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Vono J, Medeiros-Neto G 2001 Congenital goiter with hypothyroidism caused by a 5′ splice site mutation in the thyroglobulin gene. Thyroid 11:685-690
25. Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM 2003 Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G>A[R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab 88:3546-3553
26. Gutnisky VJ, Moya CM, Rivolta CM, Domené S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM 2004 Two distinct compound heterozygous constellation (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. J Clin Endocrinol Metab 89:646-657
27. Kitanaka S, Takeda A, Sato U, Miki Y, Hishinuma A, Ieiri T, Igarashi T 2006 A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. J Hum Genet 51:379-382
28. Caputo M, Rivolta CM, Esperante SA, Gruñ eiro-Papendieck L, Chiesa A, Pellizas CG, González-Sarmiento R, Targovnik HM 2007 Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. Clin Endocrinol (Oxf) 67:351-357
29. Kim PS, Lee J, Jongsamak P, Menon S, Li B, Hossain SA, Bae JH, Panijpan B, Arvan P 2008 Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter. Mol Endocrinol 22:477-484
30. Ricketts MH, Simons MJ, Parma J, Mercken L, Dong Q, Vassart G 1987 A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc Natl Acad Sci USA 84:3181-3184
31. Van Ommen GJ, Sterk A, Mercken LO, Arnberg AC, Baas F, De Vijlder JJ 1989 Studies on the structures of the normal and abnormal goat thyroglobulin genes. Biochimie 71:211-221
32. Kim PS, Hossain SA, Park YN, Lee I, Yoo SE, Arvan P 1998 A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases. Proc Natl Acad Sci USA 95:9909-9913
33. Hishinuma A, Furudate S, Oh-Ishi M, Nagakubo N, Namatame T, Ieiri T 2000 A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats. Endocrinology 141:4050-4055
34. Kim PS, Ding M, Menon S, Jung CG, Cheng JM, Miyamoto T, Li B, Furudate S, Agui T 2000 A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat. Mol Endocrinol 14:1944-1953
35. Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G 2009 The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. J Clin Endocrinol Metab 94:2938-2944
36. Tsai WY, Lee JS, Chao MC, Chen LY, Lin SJ, Wu KH, Wang TR, Chen JS, Chuang SM 1995 Prevalence of permanent primary congenital hypothyroidism in Taiwan. J Formos Med Assoc 94:271-273
37. Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY 2002 High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. J Clin Endocrinol Metab 87:4208-4212
38. Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P 2005 Naturally occurring mutations in the thyroglobulin gene. Thyroid 15:1021-1033
39. Molina F, Pau B, Granier C 1996 The type 1 repeats of thyroglobulin regulate thyroglobulin degradation and T3, T4 release in thyrocytes. FEBS 391:229-231
40. Molina F, Bouanani M, Pau B, Granier C 1996 Characterization of the type 1 repeat from thyroglobulin, a cysteine-rich module found in proteins from different families. Eur J Biochem 240:125-133
41. Park YN, Arvan P 2004 The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin. J Biol Chem 279:17085-17089
42. Lee J, Di Jeso B, Arvan P 2008 The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone. J Clin Invest 118:2950-2958
43. Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS 2002 Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-α1(V) N-propeptides and Ehlers-Danlos syndrome type 1. Am J Hum Genet 71:451-465
44. Lykke-Andersen J, Shu MD, Steitz JA 2001 Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 293:1836-1839
45. Krawczak M, Ball EV, Cooper DN 1998 Neighboring nucleotide effects on the rates of germ line single base pair substitution in human genes. Am J Hum Genet 63:474-488
46. Stewart RD, Murray IP 1966 An evaluation of the perchlorate discharge test. J Clin Endocrinol Metab 26:1050-1058
47. Mestre-Fusco A, Bielsa IR, Albisu M, Ventura P, Aguade S, Gussinye M, Castell J 2007 Congenital hypothyroidism and dyshormonogenesis: role of 123I perchlorate discharge test. J Nucl Med 48(Suppl 2):120P
48. Medeiros-Neto GA, Knobel M, Cavaliere H, Simonetti J, Mattar E 1984 Hereditary congenital goitre with thyroglobulin deficiency causing hypothyroidism. Clin Endocrinol (Oxf) 20:631-642
49. Niepomniszcze H, Medeiros-Neto GA, Refetoff S, Degroot LJ, Fang VS 1977 Familial goitre with partial iodine organification defect, lack of thyroglobulin, and high levels of thyroid peroxidase. Clin Endocrinol (Oxf) 6:27-39
50. Targovnik HM, Frechtel GD, Varela V, Wajchenberg BL, Vassart G, Dumont J, Medeiros-Neto GA 1993 Human thyroid tissue do not express thyroalbumin. J Endocrinol Invest 16:415-419
51. Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ 2000 Two decades of screening for congenital hypothyroidism in the Netherlands: TPO gene mutations in total iodide organification defects (an update). J Clin Endocrinol Metab 85:3708-3712
52. Medeiros-Neto GA, Marcondes JA, Cavaliere H, Wajchenberg BL, Knobel M 1985 Serum thyroglobulin (Tg) stimulation with bovine TSH: a useful test for diagnosis of congenital goitrous hypothyroidism due to defective Tg synthesis. Acta Endocrinol (Copenh) 110:61-65