The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance

Francesca Silvestri; Valeria Tromba; Riccardo Schiaffini; Francesco Costantino; Fabrizio Barbetti; Sabrina Prudente

doi:10.1007/s00592-023-02065-4

The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance

Acta Diabetol. 2023 Jul;60(7):989-993. doi: 10.1007/s00592-023-02065-4. Epub 2023 Mar 22.

Authors

Francesca Silvestri¹, Valeria Tromba¹, Riccardo Schiaffini², Francesco Costantino¹, Fabrizio Barbetti³, Sabrina Prudente⁴

Affiliations

¹ Department of Pediatric Diabetology, "Sapienza" University, Rome, Italy.
² Diabetology and Growth Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
³ Monogenic Diabetes Clinic, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.
⁴ Research Unit of Metabolic and Cardiovascular Diseases, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. [email protected].

PMID: 36944758
DOI: 10.1007/s00592-023-02065-4

No abstract available

Keywords: Case report; Incomplete penetrance; Monogenic diabetes; Neonatal diabetes mellitus; Sulfonylurea treatment; Variable clinical phenotype presentation.

MeSH terms

Diabetes Mellitus* / genetics
Humans
Mutation
Penetrance
Sulfonylurea Receptors / genetics

Substances

ABCC8 protein, human
Sulfonylurea Receptors

MeSH terms

Substances

Grants and funding