Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes

Serena Pezzilli¹, Tommaso Mazza², Maria Giovanna Scarale³, Yaling Tang^{4

5}, Francesco Andreozzi⁶, Marco Giorgio Baroni^{7

8}, Raffaella Buzzetti⁹, Maria Gisella Cavallo⁹, Efisio Cossu¹⁰, Paola D'Angelo¹¹, Salvatore De Cosmo¹², Olga Lamacchia¹³, Frida Leonetti¹⁴, Susanna Morano⁹, Lelio Morviducci¹⁵, Giuseppe Penno¹⁶, Paolo Pozzilli¹⁷, Giuseppe Pugliese¹⁸, Giorgio Sesti¹⁸, Alessandro Doria^{4

5}, Vincenzo Trischitta^{1

8}, Sabrina Prudente¹⁹

Affiliations

¹ Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
² Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
³ Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
⁴ Research Division, Joslin Diabetes Center, Boston, MA, USA.
⁵ Department of Medicine, Harvard Medical School, Boston, MA, USA.
⁶ Department of Medical and Surgical Sciences, University "Magna Graecia" of Catanzaro, Catanzaro, Italy.
⁷ Department of Clinical Medicine, Health & Environmental Sciences, University of L'Aquila, L' Aquila, Italy.
⁸ IRCCS Neuromed, Pozzilli (Is), Italy.
⁹ Department of Experimental Medicine, Sapienza University, Rome, Italy.
¹⁰ Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
¹¹ Unit of Diabetology, Sandro Pertini Hospital, Rome, Italy.
¹² Department of Medicine, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
¹³ Unit of Endocrinology, Department of Medical and Surgical Sciences, University Hospital of Foggia, Foggia, Italy.
¹⁴ Diabetes Unit, Department of Medical-Surgical Sciences and Biotechnologies, Santa Maria Goretti Hospital, Sapienza University of Rome, Latina, Italy.
¹⁵ Unit of Diabetology, S. Spirito Hospital-AslRM1, Rome, Italy.
¹⁶ Section of Diabetes and Metabolic Disease, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
¹⁷ Department of Endocrinology and Diabetes, Campus Bio-Medico University of Rome, Rome, Italy.
¹⁸ Department of Clinical and Molecular Medicine, Sapienza University, Rome, Italy.
¹⁹ Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. s.prudente@css-mendel.it.

PMID: 35112188
DOI: 10.1007/s00592-021-01847-y

Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes

Serena Pezzilli et al. Acta Diabetol. 2022 May.

. 2022 May;59(5):747-750.

doi: 10.1007/s00592-021-01847-y. Epub 2022 Feb 3.

Authors

Affiliations

¹ Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
² Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
³ Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
⁴ Research Division, Joslin Diabetes Center, Boston, MA, USA.
⁵ Department of Medicine, Harvard Medical School, Boston, MA, USA.
⁶ Department of Medical and Surgical Sciences, University "Magna Graecia" of Catanzaro, Catanzaro, Italy.
⁷ Department of Clinical Medicine, Health & Environmental Sciences, University of L'Aquila, L' Aquila, Italy.
⁸ IRCCS Neuromed, Pozzilli (Is), Italy.
⁹ Department of Experimental Medicine, Sapienza University, Rome, Italy.
¹⁰ Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
¹¹ Unit of Diabetology, Sandro Pertini Hospital, Rome, Italy.
¹² Department of Medicine, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
¹³ Unit of Endocrinology, Department of Medical and Surgical Sciences, University Hospital of Foggia, Foggia, Italy.
¹⁴ Diabetes Unit, Department of Medical-Surgical Sciences and Biotechnologies, Santa Maria Goretti Hospital, Sapienza University of Rome, Latina, Italy.
¹⁵ Unit of Diabetology, S. Spirito Hospital-AslRM1, Rome, Italy.
¹⁶ Section of Diabetes and Metabolic Disease, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
¹⁷ Department of Endocrinology and Diabetes, Campus Bio-Medico University of Rome, Rome, Italy.
¹⁸ Department of Clinical and Molecular Medicine, Sapienza University, Rome, Italy.
¹⁹ Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. s.prudente@css-mendel.it.

PMID: 35112188
DOI: 10.1007/s00592-021-01847-y

No abstract available

Keywords: Early-onset type 2 diabetes; Monogenic diabetes; Precision medicine.

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References

1. Todd JN, Kleinberger JW, Zhang H et al (2021) Monogenic diabetes in youth with presumed type 2 diabetes: results from the progress in diabetes genetics in youth (ProDiGY) collaboration. Diabetes Care. 6: dc210491. Doi: https://doi.org/10.2337/dc21-0491
1. Hattersley AT, Patel KA (2017) Precision diabetes: learning from monogenic diabetes. Diabetologia 60(5):769–777. https://doi.org/10.1007/s00125-017-4226-2 - DOI - PubMed - PMC
1. Pezzilli S, Ludovico O, Biagini T et al (2018) Insights from molecular characterization of adult patients of families with multigenerational diabetes. Diabetes 67(1):137–145. https://doi.org/10.2337/db17-0867 - DOI - PubMed
1. Vaxillaire M, Bonnefond A, Froguel P (2012) The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Pract Res Clin Endocrinol Metab 26(2):171–187. https://doi.org/10.1016/j.beem.2011.12.001 - DOI - PubMed
1. Naylor R (2019) Economics of genetic testing for diabetes. Curr Diab Rep 19(5):23. https://doi.org/10.1007/s11892-019-1140-7 - DOI - PubMed - PMC

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Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes

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Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes

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