Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms

Journal of Endocrinology

Volumn 195, Issue 1, 2007, Pages 167-177

  Caputo, Mariela ^a   Rivolta, Carina M ^a,b   Gutnisky, Viviana J ^a   Gruñeiro Papendieck, Laura ^c   Chiesa, Ana ^c   Medeiros Neto, Geraldo ^d   González Sarmiento, Rogelio ^b   Targovnik, Héctor M ^a,b  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^b UNIVERSITY OF SALAMANCA   (Spain)

^c Centro de Investigaciones Endocrinologicas   (Argentina)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN;

ALLELE; ARGENTINA; ARTICLE; BRAZIL; CHROMOSOME; CLINICAL ARTICLE; CONGENITAL HYPOTHYROIDISM; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE CONSTRUCT; GENE DELETION; GENE INSERTION; GENE LOCATION; GENETIC ASSOCIATION; GENOTYPE; GOITER; HAPLOTYPE; HETEROZYGOTE DETECTION; HORMONE SYNTHESIS; HUMAN; INTRON; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ARGENTINA; AUTORADIOGRAPHY; BRAZIL; CHILD; CONGENITAL HYPOTHYROIDISM; GENE FREQUENCY; GENOTYPE; GOITER; HAPLOTYPES; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; THYROGLOBULIN; THYROID FUNCTION TESTS; THYROID GLAND;

EID: 35848930594     PISSN: 00220795     EISSN: None     Source Type: Journal    
DOI: 10.1677/JOE-07-0033     Document Type: Article

References (38)

1. Alzahrani AS, Baitei EY, Zou M & Shi Y 2006 Metastatic thyroid follicular carcinoma arising from congenital goiter due to a novel splice donor site mutation in the thyroglobulin gene. Journal of Clinical Endocrinology and Metabolism 91 740-746.
2. Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM & Targovnik HM 2003 Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725GA(R2223H)) resulting in fetal goitrous hypothyroidism. Journal of Clinical Endocrinology and Metabolism 88 3546-3553.
3. 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.
4. Dunn AD, Corsi CM, Myers HE & Dunn JT 1998 Tyrosine 130 is an important outer ring donor for thyroxine formation in thyroglobulin. Journal of Biological Chemistry 273 25223-25229.
5. González-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel-Velado E & Miralles-Garcia JM 2001 Monoallelic deletion in the 5′ region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter. Thyroid 11 789-793.
6. 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. Journal of Clinical Endocrinology and Metabolism 89 646-657.
7. 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. Journal of Clinical Endocrinology and Metabolism 84 1438-1444.
8. Hishinuma A, Furudate S-I, Masamichi O-I, Nagakubo N, Namatame T & Ieiri T 2000 A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats. Endocrinology 141 4050-4055.
9. 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.
10. Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K, Harada S et al. 2006 Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. Journal of Clinical Endocrinology and Metabolism 91 3100-31004.
11. Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S-I, Perret J & Vassart G 1991 A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. Journal of Clinical Investigation 88 1901-1905.
12. Kim PS, Hossain SA, Park Y-N, Lee I, Yoo S-E & 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. PNAS 95 9909-9913.
13. Kim PS, Ding M, Menon S, Jing C-G, Cheng J-M, Miyamoto T, Li B, Furudate S-I & Agin T 2000 A missemse mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat. Molecular Endocrinology 14 1944-1953.
14. Kitanaka S, Takeda A, Sato U, Miki Y, Hishinuma A, Ieiri T & Igarashi T 2006 A novel compound compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. Journal of Human Genetics 51 379-382.
15. Krawczak M, Ball EV & Cooper DN 1998 Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. American Journal of Human Genetics 63 474-488.
16. Malthièry Y & Lissitzky S 1987 Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA. European Journal of Biochemistry 165 491-498.
17. Medeiros-Neto G, Kim PS, Yoo SE, Vono J, Targovnik HM, Camargo R, Hossain SA & Arvan P 1996 Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. Journal of Clinical Investigation 98 2838-2844.
18. Mendive FM, Rossetti LC, Vassart G & Targovnik HM 1997 Identification of a new thyroglobulin variant: a guanine-to-arginine transition resulting in the substitution of arginine 2510 by glutamine. Thyroid 7 587-591.
19. Mendive FM, Rivolta CM, Moya CM, Vassart G & Targovnik HM 2001 Genomic organization of the human thyroglobulin gene. The complete intron-exon structure. European Journal of Endocrinology 145 485-496.
20. Mendive FM, Rivolta CM, González-Sarmiento R, Medeiros-Neto G & Targovnik HM 2005 Nonsense-associated alternative splicing of the human thyroglobulin gene. Molecular Diagnosis 9 143-149.
21. Moya CM, Varela V, Rivolta CM, Mendive FM & Targovnik HM 2003 Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene. Thyroid 13 319-323.
22. Murray MG & Thompson WF 1980 Rapid isolation of high molecular-weight plant DNA. Nucleic Acids Research 8 4321-4325.
23. Park YN & Arvan P 2004 The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin. Journal of Biological Chemistry 279 17085-17089.
24. 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.
25. 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. PNAS 84 3181-3184.
26. Rivolta CM & Targovnik HM 2006 Molecular advances in thyroglobulin disorders. Clinica Chimica Acta 374 8-24.
27. Rivolta CM, Moya CM, Mendive FM & Targovnik HM 2002 Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene. Thyroid 12 773-779.
28. Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-García JM, González-Sarmiento R & Targovnik HM 2005 A new case of congenital goiter with hypothyroidism due to a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. Journal of Clinical Endocrinology and Metabolism 90 3766-3770.
29. Swillens S, Ludgate M, Mercken L, Dumont JE & Vassart G 1986 Analysis and structure homologies between thyroglobulin and acetylcholinesterase: possible functional and clinical significance. Biochemical and Biophysical Research Communications 137 142-148.
30. Targovnik HM, Varela V, Juvenal GJ, Propato F, Chester HA, Krawiec L, Frechtel G, Moran DH, Perinetti HA & Pisarev MA 1990 Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis. Journal of Endocrinological Investigation 13 797-806.
31. 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. Journal of Clinical Endocrinology and Metabolism 77 210-215.
32. Targovnik H, Vono J, Billerbeck AEC, 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. Journal of Clinical Endocrinology and Metabolism 80 3356-3336.
33. Targovnik HM, Rivolta CM, Mendive FM, Moya CM & Medeiros-Neto G 2001 Congenital goiter with hypothyroidism caused by a 5′ splice site mutation in the thyroglobulin gene. Thyroid 11 685-690.
34. Tomer Y, Greenberg DA, Concepcion E, Ban Y & Davies TF 2002 Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. Journal of Clinical Endocrinology and Metabolism 87 404-407.
35. van de Graaf SAR, Pauws E, de Vjilder JJM & Ris-Stalpers C 1997 The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells. European Journal of Endocrinology 136 508-515.
36. van de Graaf SAR, Ris-Stalpers C, Veenboer GJM, Cammenga M, Santos C, Targovnik HM, de Vijlder JJM & Medeiros-Neto G 1999 A premature stopcodon in thyroglobulin mRNA results in familial goiter and moderate hypothyroidism. Journal of Clinical Endocrinology and Metabolism 84 2537-2542.
37. van de Graaf SAR, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM & de Vijlder JJM 2001 Up to date with human thyroglobulin. Journal of Endocrinology 170 307-321.
38. Veenboer GJM & de Vijlder JJM 1993 Molecular basis of the thyroglobulin synthesis defect in Dutch goats. Endocrinology 132 377-381.