1. A new de novo mutation in the GCK gene causing MODY2
- Author
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Paolo Staffolani, Luciano Massi, Paola Cipriano, Silvia Carinci, Serena Silvestri, Stefano Tumini, Alessia Cappelli, and Luigi Pianese
- Subjects
Male ,Genetics ,Adolescent ,business.industry ,Glucokinase ,Guanine ,Endocrinology, Diabetes and Metabolism ,De novo mutation ,General Medicine ,Molecular biology ,Frameshift mutation ,chemistry.chemical_compound ,Exon ,Endocrinology ,Diabetes Mellitus, Type 2 ,chemistry ,Genetic marker ,Mutation ,Mutation (genetic algorithm) ,Internal Medicine ,Humans ,Medicine ,business ,Gene - 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.
- Published
- 2011
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