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.