Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes
Issued Date
2026-12-01
Resource Type
ISSN
03406717
eISSN
14321203
Scopus ID
2-s2.0-105026840752
Pubmed ID
41498801
Journal Title
Human Genetics
Volume
145
Issue
1
Rights Holder(s)
SCOPUS
Bibliographic Citation
Human Genetics Vol.145 No.1 (2026)
Suggested Citation
Plengvidhya N., Tangjarusritaratorn T., Teerawattanapong N., Narkdontri T., Innang S., Songlilitchuwong S., Suthon S., Tangjittipokin W. Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes. Human Genetics Vol.145 No.1 (2026). doi:10.1007/s00439-025-02815-0 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/114701
Title
Targeted analysis of whole exome sequencing in Thai patients with neonatal diabetes
Author's Affiliation
Corresponding Author(s)
Other Contributor(s)
Abstract
Neonatal diabetes mellitus (NDM) typically presents within the first 6 months of life and generally lacks islet autoantibodies. Genetic elucidation of NDM is a prime example of precision medicine in diabetes. However, no published genetic data exist for NDM in Thailand. We aimed to assess the genetic etiology of Thai NDM using whole exome sequencing (WES). We enrolled 14 Thai patients with NDM and measured GAD65, IA-2, and ZnT8 autoantibodies. We then performed WES and analyzed 43 NDM-related genes to identify causative variants. All subjects tested negative for the three islet autoantibodies. Eight harbored variants in well-established NDM genes (KCNJ11 [n = 5], ABCC8 [n = 1], INS [n = 2 in identical twins]). Two patients with KCNJ11 variants (rs80356616: p.Val59Met and rs8035661: p.Arg50Gln) achieved excellent glycemic control on sulfonylureas, illustrating precision therapy. The remaining six carried pathogenic variants in genes associated with monogenic diabetes, including LRBA, EIF2AK3, DOCK8, WFS1, GATA6, CISD2/SLC9B1, and COQ2. This is the first report on the genetic etiology of NDM in Thailand. WES is an effective approach to identifying variants in this rare diabetes subtype. Larger cohort studies are needed to determine the true prevalence of NDM in Thailand.