ICEECE2012 Poster Presentations Diabetes (248 abstracts)
Three novel mutations in maturity-onset diabetes of the young genes in Spain
R. Palmeiro , R. Luna , I. Seoane , C. Trigo , P. Sanchez , Y. Lopez , M. Penin , C. Paramo & R. García-Mayor
Complexo Hospitalario Universitario de Vigo, Vigo, Spain.
Introduction: Maturity-onset diabetes of the young (MODY) is a genetically, metabolically and clinically heterogeneous subtype of diabetes mellitus characterized by an early onset, an autosomal dominant inheritance, and a primary defect in insulin secretion. They are caused by mutations in a reduced number of β-cell genes. Mutations in glucokinase gen (MODY 2) and hepatic nuclear factor 1α (HNF 1α) (MODY 3) are the most common.
Materials and methods: We present the cases of monogenic diabetes diagnosed in our environment between 2006 and 2010. This study involves 13 families with 23 patients (13 index cases and 10 relatives). The clinical features are listened in Table 1.
Mutations in the glucokinase gene were detected in 82.5% of the families studied, two of them have not been previously described (c984delA and C380C>A). Only one patient presented mutation in HNF 1α, neather previosly described (T156M). In the other three families no mutation where detected.
Conclusions: – Most of our patients were MODY2, since its clinical presentation makes it suspect the probability of monogenic diabetes.
– It is important to improve in the genetic study of MODY patient’s relatives to enlarge de map of mutations involved.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
| MODY 2 | MODY3 | MODY X | |
| Number of patients | 19 | 1 | 3 |
| Gender | 11/8 | 1/0 | 1/2 |
| Age at diagnosis | 21 (2–59) | 10 | 1/27 (5–9) |
| BMI | 20.4 | 19.1 | 20 |
| Fasting glucose (mg/dl) | 117.8 (103–134) | 94 | 105 (102–112) |
| HbA1c | 6.3 (5–6.4) | 5.2 | 5.7 (4.9–7.2) |
| Treatment (diet/insuline/oral hypoglucemic agent) | 15/3/1 | 1/0/0 | 2/1/0 |
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Endocrine Abstracts
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