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.
2011
MODY; Synonymous mutation; RT-PCR; diabetes
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/352596
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