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

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

doi:10.1016/j.diabres.2011.01.014

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

Diabetes Res Clin Pract. 2011 Apr;92(1):e23-6. doi: 10.1016/j.diabres.2011.01.014. Epub 2011 Feb 1.

Authors

Silvia Costantini¹, Paola Prandini, Massimiliano Corradi, Alessandra Pasquali, Giovanna Contreas, Pier Franco Pignatti, Leonardo Pinelli, Elisabetta Trabetti, Claudio Maffeis

Affiliation

¹ Regional Center for Pediatric Diabetes, ULSS 20 & University of Verona, Department of Life and Reproduction Sciences, Section of Pediatrics, Verona, Italy. [email protected]

PMID: 21288587
DOI: 10.1016/j.diabres.2011.01.014

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Diabetes Mellitus, Type 2 / genetics*
Exons / genetics
Glucokinase / genetics*
Humans
Male
Mutation
Phenotype
RNA Splicing / genetics*

Substances

Glucokinase