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scientific articles

An AT-Rich Region in the APC Gene may cause Misinterpretation of Familial Adenomatous Polyposis Molecular Screening

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source: Human mutation

year: 2012

authors: Raffaele Palmirotta, Maria Laura De Marchis, Giorgia Ludovici, Barbara Leone, Jhessica Alessandroni, Antonella Spila, Maria Giovanna Valente, David Della-Morte


Familial adenomatous polyposis (FAP) is an autosomal-dominant condition mainly due to a mutation of the adenomatous polyposis coli (APC) gene. The present study reports evidence of a technical issue occurring during the mutational analysis of APC exon 4. Genetic conventional direct sequence analysis of a repetitive AT-rich region in the splice acceptor site of APC intron 3 could be misinterpreted as a pathogenetic frameshift result. However, this potential bias may be bypassed adopting a method for random mutagenesis of DNA based on the use of a triphosphate nucleoside analogues mixture. Using this method as a second-level analysis, we also demonstrated the nonpathogenic nature of the variant in the poly A trait in APC exon 4 region (c.423-4delA) that do not result in aberrant splicing of APC exons 3-4; conversely, we did not find a previously reported T deletion/insertion polymorphism.

organization: IRCCS San Raffaele Pisana

DOI: 10.1002/humu.22043

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