Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis

Autor(es)

Brust, Ester S. ^[1] ; Beltrao, Cristine B. ^{[1, 2]} ; Chammas, Maria C. ^[3] ; Watanabe, Tomoco ^[3] ; Sapienza, Marcelo T. ^[3] ; Marui, Suemi ^[1]

Afiliação do(s) autor(es)

^[1] HCFMUSP, Unidade Tireoide, Lab Endocrinol Celular & Mol LIM 25, Disciplina Endocrinol, Sao Paulo, SP - Brazil

^[2] HCFMUSP, Assoc Pais Amigos Excepcionais APAE Sao Caetano d, Sao Paulo, SP - Brazil

^[3] FMUSP, Inst Radiol InRad, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Arquivos Brasileiros de Endocrinologia e Metabologia; v. 56, n. 3, p. 173-177, APR 2012.
• Citações Web of Science: 9

Resumo

Objectives: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. Subjects and methods: Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patients, and TSH receptor ( TSHR) gene in those with hypoplasia. Results: In 27 nonconsanguineous patients with TD, 13 were diagnosed with ectopia, 11 with hypoplasia, and 3 with athyreosis. No mutations were detected in any of the genes studied. Conclusion: Sporadic cases of TD are likely to be caused by epigenetic factors, rather than mutations in thyroid transcription factors or genes involved in thyroid development. Arq Bras Endocrinol Metab. 2012;56(3):173-7 (AU)

• Processo FAPESP: 06/05800-1 - Pesquisa de mutações nos genes PAX-8 e receptor do TSH após determinação da etiologia do hipotireoidismo congênito: importância da ultra-sonografia com Doppler colorido, cintilografia da tireóide e teste do perclorato intravenoso
• Beneficiário: Suemi Marui
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 08/04786-0 - Diagnóstico molecular em pacientes com suspeita de deficiência de tireoglobulina e tireoperoxidase
• Beneficiário: Ester Saraiva Brust
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica