50 research outputs found
VigilĂąncia epidemiolĂłgica dos defeitos baixos de tubo neural no Hospital de ClĂnicas de Porto Alegre entre 1983 e 1999 : prevalĂȘncia e fatores de risco associados
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Germline MUTYH (MYH) mutations in portuguese individuals with multiple colorectal adenomas
Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently
been described in association with predisposition to multiple colorectal adenomas and
cancer. In contrast to the classic dominant condition of familial adenomatous polyposis
(FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal
recessive disease. The identification of individuals affected by MYH polyposis brings new
and important implications for the diagnostic, screening, genetic counseling, follow up and
therapeutic options in these patients. In this study, screening for germinal mutations in the
MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas
or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene.
The results revealed the presence of biallelic germline MYH mutations in 21 patients. In
addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and
c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously
described. © 2004 Wiley-Liss, Incinfo:eu-repo/semantics/publishedVersio
ApĂȘndices e fossetas prĂ©-auriculares : existe alguma correlação destes achados com dĂ©fict auditivo ou malformaçÔes renais em nossa população?
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