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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Brust, Ester S. [1] ; Beltrao, Cristine B. [1, 2] ; Chammas, Maria C. [3] ; Watanabe, Tomoco [3] ; Sapienza, Marcelo T. [3] ; Marui, Suemi [1]
Total Authors: 6
Affiliation:
[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
Total Affiliations: 3
Document type: Journal article
Source: Arquivos Brasileiros de Endocrinologia e Metabologia; v. 56, n. 3, p. 173-177, APR 2012.
Web of Science Citations: 9
Abstract

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)

FAPESP's process: 06/05800-1 - Study of mutations in PAX-8 and TSH receptor genes after determination of congenital hypothyroidism etiology: importance of color Doppler ultrasonography, thyroid uptake and scan and intravenous perchlorate test
Grantee:Suemi Marui
Support Opportunities: Regular Research Grants
FAPESP's process: 08/04786-0 - Molecular diagnosis in suspected patients with thyroglobulin and thyroperoxidase deficiencies
Grantee:Ester Saraiva Brust
Support Opportunities: Scholarships in Brazil - Scientific Initiation