1. Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital
- Author
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Maurizio, Delvecchio, Ornella, Ludovico, Claudia, Menzaghi, Rosa, Di Paola, Leopoldo, Zelante, Antonella, Marucci, Valeria, Grasso, Vincenzo, Trischitta, Massimo, Carella, Fabrizio, Barbetti, Francesco, Gallo, Maria Susanna, Coccioli, Clara, Zecchino, Maria Felicia, Faienza, Giuliana, Cardinale, Adriana, Franzese, Enza, Mozzillo, Dario, Iafusco, Angela, Zanfardino, Delvecchio, M, Ludovico, O, Menzaghi, C, Di Paola, R, Zelante, L, Marucci, A, Grasso, V, Trischitta, V, Carella, M, Barbetti, F, Gallo, F, Coccioli, M, Zecchino, C, Faienza, Mf, Cardinale, G, Franzese, A, Mozzillo, E, Iafusco, Dario, Zanfardino, A., Delvecchio, M., Ludovico, O., Menzaghi, C., Di Paola, R., Zelante, L., Marucci, A., Grasso, V., Trischitta, V., Carella, M., Barbetti, F., Gallo, F., Coccioli, Ms., Zecchino, C., Faienza, Mf., Cardinale, G., Franzese, A., Mozzillo, E., and Iafusco, D.
- Subjects
Adult ,Pediatrics ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Basic Helix-Loop-Helix Transcription Factor ,DNA Mutational Analysis ,Polymorphism, Single Nucleotide ,Settore MED/13 - Endocrinologia ,DNA Mutational Analysi ,Hospital ,Gene Frequency ,Polymorphism (computer science) ,Diabetes mellitus ,Glucokinase ,Internal Medicine ,medicine ,Basic Helix-Loop-Helix Transcription Factors ,Prevalence ,Humans ,Hepatocyte Nuclear Factor 1-alpha ,Child ,Gene ,Allele frequency ,Hepatocyte Nuclear Factor 1-beta ,Advanced and Specialized Nursing ,Homeodomain Proteins ,Type 1 diabetes ,Molecular screening ,business.industry ,Medicine (all) ,Homeodomain Protein ,medicine.disease ,Hospitals ,HNF1A ,Pedigree ,Diabetes Mellitus, Type 2 ,Hepatocyte Nuclear Factor 4 ,Italy ,Trans-Activator ,Mutation ,Trans-Activators ,business ,Human - Abstract
Maturity-onset diabetes of the young (MODY; MIM# 606391) is a genetically and clinically heterogeneous form of diabetes, accounting for 1–2% of all diabetes cases (1). MODY is characterized by mild hyperglycemia or overt diabetes usually detected in three consecutive generations, with onset before the age of 25 years and absence of type 1 diabetes autoantibodies. Among the thirteen MODY genes identified, two subtypes, GCK -MODY and HNF1A -MODY, account for most of cases (1). The prevalence of GCK -MODY has been reported higher in Southern Europe (2), while HNF1A -MODY is the most common MODY subtype in Northern Europe (3). This difference might be attributable to the clinical setting in which genetic screening is performed, especially when pediatric and adult diabetes clinics are distinct entities. We addressed this issue by investigating MODY patients identified in the pediatric or in the adult diabetes clinics of the same research-based …
- Published
- 2014