A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

doi:10.1038/s44321-025-00362-9

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A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.

EMBO molecular medicine - 1 Feb 2026

Tong Yue, Becker Marianne, Schierloh Ulrike, Natividade da Silva Flávia, Haataja Leena, Cai Ying, Patel Kashyap A, Kobaisi Farah, Mirshahi Uyenlinh L, Colclough Kevin, Javed Muhammad Shabab, Wakeling Matthew N, Fantuzzi Federica, Lytrivi Maria, Sawatani Toshiaki, Arroyo Maria Nicol, Yi Xiaoyan, Vinci Chiara, Montaser Hossam, Pachera Nathalie, Otonkoski Timo, Igoillo-Esteve Mariana, Scharfmann Raphaël, Hattersley Andrew T, Arvan Peter, De Beaufort Carine, Cnop Miriam

Abstract excerpt

The INS c.16 C > T (insulin p.Arg6Cys, R6C) variant was reported to cause autosomal dominant monogenic diabetes, yet its pathogenicity has been questioned. R6C preproinsulin exhibits impaired translocation into the endoplasmic reticulum (ER). We explored R6C pathogenicity using integrative clinical, genetic, and functional approaches.Homozygous INS R6C individuals presented early-onset insulin-treated diabetes,...

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PMID: 41484206
DOI: 10.1038/s44321-025-00362-9
PMCID: PMC12905373

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