Related Experiment Video
Updated: Jun 17, 2026
Single-cell RNA Sequencing and Analysis of Human Pancreatic Islets
Published on: July 18, 2019
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology
Emma L Edghill1, Jayne A L Minton, Christopher J Groves
1Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom.
Context:
Approximately 39% of cases with permanent neonatal diabetes (PNDM) and about 11% with maturity onset diabetes of the young (MODY) have an unknown genetic aetiology. Many of the known genes causing MODY and PNDM were identified as being critical for beta cell function before their identification as a cause of monogenic diabetes.
Objective:
We used nominations from the EU beta cell consortium EURODIA project partners to guide gene candidacy.
Subjects:
Seventeen cases with permanent neonatal diabetes and 8 cases with maturity onset diabetes of the young.
Main Outcome Measures:
The beta cell experts within the EURODIA consortium were asked to nominate 3 "gold", 3 "silver" and 4 "bronze" genes based on biological or genetic grounds. We sequenced twelve candidate genes from the list based on evidence for candidacy.
Results:
Sequencing ISL1, LMX1A, MAFA, NGN3, NKX2.2, NKX6.1, PAX4, PAX6, SOX2, SREBF1, SYT9 and UCP2 did not identify any pathogenic mutations.
Conclusion:
Further work is needed to identify novel causes of permanent neonatal diabetes and maturity onset diabetes of the young utilising genetic approaches as well as further candidate genes.
