13.10.2022 | Short Communication
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
verfasst von:
Antonella Marucci, Rosa Di Paola, Irene Rutigliano, Grazia Fini, Serena Pezzilli, Claudia Menzaghi, Vincenzo Trischitta
Erschienen in:
Acta Diabetologica
|
Ausgabe 1/2023
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Excerpt
The current molecular diagnostic strategy for monogenic diabetes (MD) outside of infancy consists in testing 11 Maturity-Onset Diabetes of the Young (MODY) genes, while syndromic diabetes (SD) genes are only tested in patients with suggestive clinical features (i.e., urogenital morphological abnormalities, hearing and vision impairment) [
1]. This strategy has been recently questioned by studies [
2,
3] reporting that ~ 20% MODY patients were indeed carriers of mutations in SD genes, thus suggesting to change our current strategy [
2,
3]. We report data on the proportion of SD gene mutations in MODY patients from a single service in Southern Italy. …