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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.)

The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis

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Author(s):
Kizys, Marina M. L. [1] ; Nesi-Franca, Suzana [2] ; Cardoso, Mirian G. [1] ; Harada, Michelle Y. [1] ; Melo, Maria Clara C. [1] ; Chiamolera, Maria Izabel [1] ; Dias-da-Silva, Magnus R. [1, 3] ; Maciel, Rui M. B. [1]
Total Authors: 8
Affiliation:
[1] Univ Fed Sao Paulo, Lab Mol & Translat Endocrinol, Dept Med, Escola Paulista Med, BR-04039032 Sao Paulo - Brazil
[2] Univ Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana - Brazil
[3] Univ Fed Sao Paulo, Lab Mol & Translat Endocrinol, BR-04039032 Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; v. 27, n. 3-4, p. 317-322, MAR 2014.
Web of Science Citations: 3
Abstract

Background: The molecular mechanisms leading to the formation of the two thyroid symmetrical lobes, which are impaired in thyroid hemiagenesis (TH), are little known. Objective: The aim of this work was to search for mutations in thyroid developmental candidate genes HOXA3, HOXB3, HOXD3 and PITX2. Methods: Total DNA from peripheral blood was extracted and then the entire coding region of all these genes was amplified by polymerase chain reaction and direct sequencing. Results: Herein we describe familial cases of TH in two generations (proband and his father), in addition to other two sporadic cases. We have found polymorphisms in the HOXB3 (rs2229304), HOXD3 (rs34729309, rs1051929, c. 543199G > T and c. 543-34G > A; and a new synonymous variant, NP\_ 008829.3: p. 314; C > G) and PITX2 (c. 45+ 76C > T) genes, but no deleterious mutations. Conclusion: These results suggest the existence of other left-right thyroid asymmetry candidate genes in humans such as classical Mendelian mutation-causing disease, as well as other etiopathogenic mechanisms such as epigenetic modifications, especially for sporadic hemiagenesis. (AU)

FAPESP's process: 12/00079-3 - Thyroid dysgenesis: screening and functional analyses of mutations of the candidate-genes NKX2.5, HAND2, ISL1, TBX1, HOXA3/HOXB3/HOXD3 and EYA1 in a cohort of 601 patients with congenital hypothyroidism
Grantee:Rui Monteiro de Barros Maciel
Support Opportunities: Regular Research Grants
FAPESP's process: 11/20747-8 - Clinical, biochemical and molecular investigation of Thyrotoxic periodic paralysis
Grantee:Magnus Régios Dias da Silva
Support Opportunities: Regular Research Grants
FAPESP's process: 12/02465-8 - Methylation pattern and HES1, Wnt5a and RET gene expressions in familial and sporadic medullary thyroid carcinoma
Grantee:Mirian Gonçalves Cardoso
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)
FAPESP's process: 12/01628-0 - Thyroid dysgenesis: molecular analysis and functional studies of mutations in candidate genes discovered by next generation sequence in a cohort of 268 cases
Grantee:Marina Malta Letro Kizys Polisel
Support Opportunities: Scholarships in Brazil - Doctorate (Direct)