title: A new de novo mutation in the GCK gene causing MODY2.
abstract: Analysis of glucokinase (GCK) gene in a 15-year-old male identified a new frameshift mutation in exon 4 caused by a heterozygous guanine deletion at position 382 (c.382delG, p.E128Xfs). No mutation was detected in the parents. Polymorphic markers' study excluded false paternity indicating that c.382delG is a novel de novo mutation.
authors.affiliation: Scuola di Bioscienze e Biotecnologie, Università degli studi di Camerino, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Cappelli
authors.forename: Serena
authors.initials: S
authors.lastname: Silvestri
authors.forename: Stefano
authors.initials: S
authors.lastname: Tumini
authors.forename: Silvia
authors.initials: S
authors.lastname: Carinci
authors.forename: Paola
authors.initials: P
authors.lastname: Cipriano
authors.forename: Luciano
authors.initials: L
authors.lastname: Massi
authors.forename: Paolo
authors.initials: P
authors.lastname: Staffolani
authors.forename: Luigi
authors.initials: L
authors.lastname: Pianese
mesh_terms: D000293:Adolescent; D003924:Diabetes Mellitus, Type 2 / Q000209:etiology* / Q000235:genetics*; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D005941:Glucokinase