A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype

作者：Costantini Silvia^*; Prandini Paola; Corradi Massimiliano; Pasquali Alessandra; Contreas Giovanna; Pignatti Pier Franco; Pinelli Leonardo; Trabetti Elisabetta; Maffeis Claudio

来源：Diabetes Research and Clinical Practice, 2011, 92(1): E23-E26.

DOI：10.1016/j.diabres.2011.01.014

• MODY
• GCK
• Synonymous mutation
• RT-PCR
• Cryptic splice site

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.

• 出版日期2011-4