title: A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype.
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.
authors.affiliation: Regional Center for Pediatric Diabetes, ULSS 20 & University of Verona, Department of Life and Reproduction Sciences, Section of Pediatrics, Verona, Italy. silvia.costantini@univr.it
authors.forename: Silvia
authors.initials: S
authors.lastname: Costantini
authors.forename: Paola
authors.initials: P
authors.lastname: Prandini
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Corradi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pasquali
authors.forename: Giovanna
authors.initials: G
authors.lastname: Contreas
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Leonardo
authors.initials: L
authors.lastname: Pinelli
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Trabetti
authors.forename: Claudio
authors.initials: C
authors.lastname: Maffeis
mesh_terms: D000293:Adolescent; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D005941:Glucokinase