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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM; v. 27, n. 3-4, p. 317-322, MAR 2014.
• Citações Web of Science: 3

Resumo

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)

• Processo FAPESP: 12/00079-3 - Disgenesias tiroidianas: rastreamento e estudo funcional de mutações dos genes candidatos NKX2.5, HAND2, ISL1, TBX1, HOXA3/HOXB3/HOXD3 e EYA1 numa coorte de 601 pacientes com hipotiroidismo congênito
• Beneficiário: Rui Monteiro de Barros Maciel
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 11/20747-8 - Investigação clínica, bioquímica e molecular da paralisia periódica tirotóxica
• Beneficiário: Magnus Régios Dias da Silva
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 12/02465-8 - Padrão de metilação e expressão dos genes HES1, WNT5A e RET em carcinoma medular da tiróide familial e esporádico
• Beneficiário: Mirian Gonçalves Cardoso
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto
• Processo FAPESP: 12/01628-0 - Disgenesias tiroidianas: análise molecular e estudo funcional de mutações em genes candidatos a partir do sequenciamento de última geração numa coorte de 268 casos
• Beneficiário: Marina Malta Letro Kizys Polisel
• Modalidade de apoio: Bolsas no Brasil - Doutorado Direto