Pune: BJMC–Sassoon Doctors Identify World’s First Genetic Mutation Linked to Transient Neonatal Diabetes
Pune: BJMC–Sassoon Doctors Identify World’s First Genetic Mutation Linked to Transient Neonatal Diabetes
Pune, January 24, 2026: In a significant global medical breakthrough, doctors at the Neonatal Intensive Care Unit (NICU) of B J Medical College (BJMC) and Sassoon General Hospital (SGH) have identified a previously unknown genetic mutation linked to Transient Neonatal Diabetes Mellitus (TNDM), a rare form of diabetes seen in newborns.
The finding, which has been published in the international peer-reviewed Cureus Journal of Medical Science, emerged from the treatment of an extremely premature male infant born at 27 weeks of gestation, weighing only 720 grams. The baby was admitted to the SGH NICU in July 2025 and soon after birth developed persistent high blood sugar levels caused by insulin deficiency, a condition known as Neonatal Diabetes Mellitus.
Doctors noted that despite standard treatment protocols, the infant continued to experience uncontrolled hyperglycaemia, weight loss and excessive urination. “In premature babies, several organs are still developing. We ruled out all common causes of high blood sugar, but nothing explained the severity of the condition. There was also no family history of diabetes in the parents,” said Dr Aarti Kinikar, Head of the Paediatrics Department at BJMC.
With no clear clinical cause identified, the medical team opted for Whole-Exome Sequencing (WES), an advanced genetic test. The analysis revealed a previously unreported homozygous mutation in the MS4A6A gene — a gene that has never before been associated with neonatal diabetes anywhere in the world. Subsequent genetic confirmation established this as the first documented global case linking the MS4A6A mutation to transient neonatal diabetes.
BJMC Dean Dr Eknath Pawar congratulated the team, calling the discovery a major achievement for public healthcare institutions. “This research highlights the capacity of government medical colleges to deliver findings of international importance,” he said.
Experts say the discovery has important clinical implications, as correctly identifying transient neonatal diabetes can prevent children from being placed on unnecessary lifelong insulin therapy. Following insulin treatment, the infant’s blood sugar levels stabilised and steady weight gain was observed.
“The baby was treated until November, after which insulin was discontinued and he was discharged. This genetic confirmation helped us establish that the condition was temporary. In many cases, such children are mistakenly advised lifelong insulin, which may not be required,” Dr Kinikar explained.
She added that while the MS4A6A gene has previously been linked to adult-onset diabetes, it has never been reported in connection with neonatal diabetes. Genetic testing showed that both parents were carriers of the mutation but did not have diabetes themselves, though diabetes was noted in the grandparents later in life.
The landmark finding is expected to pave the way for further research into neonatal diabetes and improve diagnostic precision and treatment outcomes for affected newborns worldwide.
