Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis;Ausência de mutações nos genes PAX-8, NKX2.5 e receptor de TSH em pacientes com disgenesia tireoidiana

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 56, Issue 3, 2012, Pages 173-177

  Brust, Ester S ^a   Beltrao, Cristine B ^b   Chammas, Maria C ^a   Watanabe, Tomoco ^a   Sapienza, Marcelo T ^a   Marui, Suemi ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Associacao de Pais e Amigos dos Excepcionais de Sao Paulo   (Brazil)

Author keywords

Congenital hypothyroidism; Mutation; NKX2.5; PAX8; Thyroid dysgenesis; TSHR

Indexed keywords

HOMEODOMAIN PROTEIN; NKX2 5 PROTEIN, HUMAN; NKX2-5 PROTEIN, HUMAN; PAIRED BOX TRANSCRIPTION FACTOR; PAX8 PROTEIN, HUMAN; THYROTROPIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONGENITAL HYPOTHYROIDISM; FEMALE; GENETICS; HUMAN; MALE; MUTATION; PRESCHOOL CHILD; THYROID DYSGENESIS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONGENITAL HYPOTHYROIDISM; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; THYROID DYSGENESIS; THYROTROPIN; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84862704576     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302012000300004     Document Type: Article

References (29)

1. Ramos HE, Nesi-Franca S, Boldarine VT, Pereira RM, Chiamolera MI, Camacho CP, et al. Clinical and molecular analysis of thyroid hypoplasia: a population-based approach in southern Brazil. Thyroid. 2009;19(1):61-8.
2. Larsen PR, Davies TF, Schlumberger M, Hayan I. Thyroid physiology and diagnostic evaluation of patients with thyroid disorders. In: Larsen K, Melmed P, editors. Williams Textbook of Endocrinology. New York: Saunders; 2002. p. 331-73.
3. Dias VM, Campos AP, Chagas AJ, Silva RM. Congenital hypothyroidism: etiology. J Pediatr Endocrinol Metab. 2010;23(8):815-26.
4. Kopp P. Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology. 2002;143(6):2019-24.
5. De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev. 2004;25(5):722-46.
6. Trueba SS, Auge J, Mattei G, Etchevers H, Martinovic J, Czernichow P, et al. PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations. J Clin Endocrinol Metab. 2005;90(1):455-62.
7. Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, et al. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998;19(1):83-6.
8. Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, et al. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab. 2001;86(1):234-8.
9. Lanzerath K, Bettendorf M, Haag C, Kneppo C, Schulze E, Grulich-Henn J. Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. Horm Res. 2006;66(2):96-100.
10. Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab. 2006;91(4):1428-33.
11. Gagne N, Parma J, Deal C, Vassart G, Van Vliet G. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? J Clin Endocrinol Metab. 1998;83(5):1771-5.
12. Beltrao CB, Juliano AG, Chammas MC, Watanabe T, Sapienza MT, Marui S. Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination. Endocr J. 2010;57(7):587-93.
13. Ueda D. Normal volume of the thyroid gland in children. J Clin Ultrasound. 1990;18(6):455-62.
14. Duarte GC, Tomimori EK, de Camargo RY, Catarino RM, Ferreira JE, Knobel M, et al. Excessive iodine intake and ultrasonographic thyroid abnormalities in schoolchildren. J Pediatr Endocrinol Metab. 2009;22(4):327-34.
15. Abrao MG, Billerbeck AE, Nishi MY, Marui S, Mendonca BB. [Standardization of DNA extraction with NaCl from oral mucosa cells: application in PROP1 gene study]. Arq Bras Endocrinol Metabol. 2005;49(6):978-82.
16. Kreisner E, Camargo-Neto E, Maia CR, Gross JL. Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent primary congenital hypothyroidism. Clin Endocrinol (Oxf). 2003;59(3):361-5.
17. Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S. Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter. J Pediatr Endocrinol Metab. 2004;17(7):1021-9.
18. Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab. 2001;86(8):3962-7.
19. Meeus L, Gilbert B, Rydlewski C, Parma J, Roussie AL, Abramowicz M, et al. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. J Clin Endocrinol Metab. 2004;89(9):4285-91.
20. Tonacchera M, Banco ME, Montanelli L, Di Cosmo C, Agretti P, De Marco G, et al. Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. Clin Endocrinol (Oxf). 2007;67(1):34-40.
21. Al Taji E, Biebermann H, Limanova Z, Hnikova O, Zikmund J, Dame C, et al. Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. Eur J Endocrinol. 2007;156(5):521-9.
22. Alves EA, Cruz CM, Pimentel CP, Ribeiro RC, Santos AK, Caldato MC, et al. High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. J Pediatr Endocrinol Metab. 2010;23(12):1321-8.
23. Camilot M, Teofoli F, Gandini A, Franceschi R, Rapa A, Corrias A, et al. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Clin Endocrinol (Oxf). 2005;63(2):146-51.
24. Camilot M, Teofoli F, Vincenzi M, Federici F, Perlini S, Tatò L. Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center. Genet Test. 2007;11(4):387-90.
25. Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, et al. Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. Clin Endocrinol (Oxf). 2010;73(5):671-7.
26. Esperante SA, Rivolta CM, Miravalle L, Herzovich V, Iorcansky S, Baralle M, et al. Identification and characterization of four PAX8 rare sequence variants (p. T225M, p. L233L, p. G336S and p. A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. Clin Endocrinol (Oxf). 2008;68(5):828-35.
27. Mahjoubi F, Mohammadi MM, Montazeri M, Aminii M, Hashemipour M. Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. Arq Bras Endocrinol Metabol. 2010;54(6):555-9.
28. Vassart G, Dumont JE. Thyroid dysgenesis: multigenic or epigenetic... or both? Endocrinology. 2005;146(12):5035-7.
29. Amendola E, De Luca P, Macchia PE, Terracciano D, Rosica A, Chiappetta G, et al. A mouse model demonstrates a multigenic origin of congenital hypothyroidism. Endocrinology. 2005;146(12):5038-47.