"Estudo de mutações nos genes HOXA1 e HOXB1 em pacientes com síndrome de Moebius" / Mutational analysis study of HOXA1 and HOXB1 in MOEBIUS SYNDROME patients

AUTOR(ES)

Lineu Perrone Junior

DATA DE PUBLICAÇÃO

2007

RESUMO

The Moebius Syndrome is characterized by the absence of facial and eyes mobility due to the underdevelopment of facial nerves and muscles causing a face-like mask in the compromised patients. The primary cause still need to be identified, however, different hypothesis have been established including a possible genetic alteration. The HOXB1 gene, located in the chromosome 17 is a possible candidate, since when it was mutated in animals; the phenotype found closely resembles features of clinical profile associated with humans suffering from Moebius Syndrome. Therefore, the aim of this study was to analyze possible mutations in the HOXB1 and in its paralogue HOXA1 in patients with the Moebius Syndrome.

ASSUNTO(S)

sindrome de moebius hoxa1 hoxb1 hoxb1 hoxa1 moebius syndrome

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