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

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

Author Kizys, Marina M. L. Autor UNIFESP Google Scholar
Nesi-Franca, Suzana Google Scholar
Cardoso, Mirian G. Autor UNIFESP Google Scholar
Harada, Michelle Y. Autor UNIFESP Google Scholar
Melo, Maria Clara C. Autor UNIFESP Google Scholar
Chiamolera, Maria Izabel Autor UNIFESP Google Scholar
Dias-da-Silva, Magnus R. Autor UNIFESP Google Scholar
Maciel, Rui M. B. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Univ Fed Parana
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.
Keywords congenital hypothyroidism
homeobox
thyroid embryogenesis
transcription factors
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number FAPESP: 2012/01628-0
FAPESP: 2012/02465-8
FAPESP: 2011/20747-8
FAPESP: 2012/00079-3
Date 2014-03-01
Published in Journal of Pediatric Endocrinology & Metabolism. Berlin: Walter de Gruyter Gmbh, v. 27, n. 3-4, p. 317-322, 2014.
ISSN 0334-018X (Sherpa/Romeo, impact factor)
Publisher Walter de Gruyter Gmbh
Extent 317-322
Origin http://dx.doi.org/10.1515/jpem-2013-0289
Access rights Closed access
Type Article
Web of Science ID WOS:000332532400017
URI http://repositorio.unifesp.br/handle/11600/37529

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