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

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dc.contributor.authorKizys, Marina M. L. [UNIFESP]
dc.contributor.authorNesi-Franca, Suzana
dc.contributor.authorCardoso, Mirian G. [UNIFESP]
dc.contributor.authorHarada, Michelle Y. [UNIFESP]
dc.contributor.authorMelo, Maria Clara C. [UNIFESP]
dc.contributor.authorChiamolera, Maria Izabel [UNIFESP]
dc.contributor.authorDias-da-Silva, Magnus R. [UNIFESP]
dc.contributor.authorMaciel, Rui M. B. [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Fed Parana
dc.date.accessioned2016-01-24T14:35:25Z
dc.date.available2016-01-24T14:35:25Z
dc.date.issued2014-03-01
dc.description.abstractBackground: 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.en
dc.description.affiliationUniversidade Federal de São Paulo, Lab Mol & Translat Endocrinol, BR-04039032 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Lab Mol & Translat Endocrinol, Dept Med, Escola Paulista Med, BR-04039032 São Paulo, Brazil
dc.description.affiliationUniv Fed Parana, Dept Pediat, BR-80060000 Curitiba, Parana, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Lab Mol & Translat Endocrinol, BR-04039032 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Lab Mol & Translat Endocrinol, Dept Med, Escola Paulista Med, BR-04039032 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipIDFAPESP: 2012/01628-0
dc.description.sponsorshipIDFAPESP: 2012/02465-8
dc.description.sponsorshipIDFAPESP: 2011/20747-8
dc.description.sponsorshipIDFAPESP: 2012/00079-3
dc.format.extent317-322
dc.identifierhttp://dx.doi.org/10.1515/jpem-2013-0289
dc.identifier.citationJournal of Pediatric Endocrinology & Metabolism. Berlin: Walter de Gruyter Gmbh, v. 27, n. 3-4, p. 317-322, 2014.
dc.identifier.doi10.1515/jpem-2013-0289
dc.identifier.issn0334-018X
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/37529
dc.identifier.wosWOS:000332532400017
dc.language.isoeng
dc.publisherWalter de Gruyter Gmbh
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolism
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectcongenital hypothyroidismen
dc.subjecthomeoboxen
dc.subjectthyroid embryogenesisen
dc.subjecttranscription factorsen
dc.titleThe absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesisen
dc.typeinfo:eu-repo/semantics/article
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