GCK gene analysis in an Italian MODY patient revealed a novel synonymous substitution in exon 4 (c.459T>G; p.Pro153Pro) resulting in an aberrant transcript lacking the last eight codons of the same exon. Our findings emphazise the importance of not underestimating synonymous variations when screening for disease-causing mutations.
A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype
COSTANTINI, Silvia;PRANDINI, PAOLA;CORRADI, Massimiliano;PASQUALI, Alessandra;CONTREAS, Giovanna;PIGNATTI, Pierfranco;PINELLI, Leonardo;TRABETTI, Elisabetta;MAFFEIS, Claudio
2011-01-01
Abstract
GCK gene analysis in an Italian MODY patient revealed a novel synonymous substitution in exon 4 (c.459T>G; p.Pro153Pro) resulting in an aberrant transcript lacking the last eight codons of the same exon. Our findings emphazise the importance of not underestimating synonymous variations when screening for disease-causing mutations.
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