MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience

Antonella Marucci; Rosa Di Paola; Irene Rutigliano; Grazia Fini; Serena Pezzilli; Claudia Menzaghi; Vincenzo Trischitta

doi:10.1007/s00592-022-01982-0

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience

Acta Diabetol. 2023 Jan;60(1):131-135. doi: 10.1007/s00592-022-01982-0. Epub 2022 Oct 13.

Authors

Antonella Marucci¹, Rosa Di Paola², Irene Rutigliano³, Grazia Fini², Serena Pezzilli⁴, Claudia Menzaghi², Vincenzo Trischitta^{5

6}

Affiliations

¹ Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013, San Giovanni Rotondo, FG, Italy. a.marucci@operapadrepio.it.
² Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.
³ Pediatric Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.
⁴ Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013, San Giovanni Rotondo, FG, Italy.
⁵ Research Unit of Diabetes and Endocrine Diseases, Fondazione IRCCS Casa Sollievo Della Sofferenza, Viale Cappuccini, 71013, San Giovanni Rotondo, FG, Italy. vincenzo.trischitta@uniroma1.it.
⁶ Department of Experimental Medicine, Sapienza University, Rome, Italy. vincenzo.trischitta@uniroma1.it.

PMID: 36227502
DOI: 10.1007/s00592-022-01982-0

No abstract available

Keywords: Clinical evaluation before genetic testing; Mitochondrial m.3243A > G mutation; Next generation sequencing; Precision diagnosis of monogenic diabetes.

MeSH terms

Diabetes Mellitus, Type 2* / genetics
Genetic Testing
Humans
Mutation

Supplementary concepts

Mason-Type Diabetes