Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.

doi:10.1007/s00125-026-06685-7

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY.

Diabetologia - 1 Jun 2026

Laver Thomas W, Sriram Aparajita, Wakeling Matthew N, Şiklar Zeynep, Kobaisi Farah, Kalyon Oguzhan, Hattersley Andrew T, Weedon Michael N, Flanagan Sarah E, De Franco Elisa, Colclough Kevin, Patel Kashyap A

Abstract excerpt

AIMS/HYPOTHESIS: Accurate interpretation of loss-of-function (LOF) variants in MODY genes is essential for diagnosis but remains challenging, particularly for variants that are predicted to escape nonsense-mediated decay (NMD). We aimed to systematically evaluate the pathogenicity of LOF variants, stratified by NMD-triggering and NMD-escape status, across all known MODY genes. METHODS: We analysed ultra-rare LOF...

Read the complete abstract on PubMed