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Zagari, A., Capuano, M., De Simone, A., Capobianco, V., Daniele, G., Giugliano, M., Spadaro, R., Franzese, A. and Tinto, N. (2008) Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy. PLoS One, 3, e1870.

has been cited by the following article:

• TITLE: Genotype-Phenotype Correlation in a MODY 2 Family: An Under-Diagnosed Disease

  AUTHORS: Maria Chiara Fabiano, Antonella Verrienti, Antonella Carbone, Marialuisa Sponziello, Pasquale Bellitti, Rocco Bruno

  KEYWORDS: MODY, Diabetes Mellitus, GCK, Glucokinase Gene

  JOURNAL NAME: Journal of Diabetes Mellitus, Vol.6 No.4, October 19, 2016

  ABSTRACT: Objective: We report a case of a MODY 2 family: a disease frequently under-diagnosed. Patients and Methods: We analyzed the case of three brothers that we suspected as affected by Type 1 diabetes because of their low BMI without clinical or biochemical parameters for this diagnosis. Their father was diagnosed as affected from Type 2 diabetes at the age 31 years old. Results: Genetic analysis revealed the presence in all analyzed family members of non-sense Ser 383x GCK mutation mapping in exon 9 of the gene. Conclusions: We described a case of a patient misdiagnosed as T2DM. Only after the observation of a mild hyperglicemia also in his three sons, we supposed the diagnosis of MODY 2 and we confirmed it through the genetic test. These observations enforce the validity of the designed clinical algorithm for the identification of patients to be selected for the genetic diagnosis of MODY 2.