Doctors at the Neonatal Intensive Care Unit (NICU) of B J Government Medical College and Sassoon General Hospital, Pune, have identified an association between a novel genetic mutation and Transient Neonatal Diabetes Mellitus — a rare metabolic disorder.
This discovery, made in an extremely premature newborn, is being recognised internationally as the first case worldwide linking this specific genetic mutation to transient neonatal diabetes mellitus.
Published in the Cureus Journal of Medical Science, researchers said that this was the first documented case worldwide linking MS4A6A mutation to transient neonatal diabetes and why it was also important is that now it prevents unnecessary lifelong insulin therapy.
“This unique case involved a male infant born at just 27 weeks of gestation, weighing only 720 grams, who was admitted to the Sassoon Hospital NICU. During the early neonatal period, the baby developed persistent hyperglycemia due to insulin deficiency — a condition known as Neonatal Diabetes Mellitus, an extremely rare disorder. Despite requiring insulin therapy initially, the baby’s diabetes resolved spontaneously, confirming the diagnosis of Transient Neonatal Diabetes Mellitus,” Dr Aarti Kinikar, Professor and Head of Department of Paediatrics, B J Government Medical College, said.
Advanced genetic testing revealed a previously unreported homozygous mutation in the MS4A6A gene, a gene never before associated with neonatal diabetes mellitus anywhere in the world. Further advanced genetic analysis confirmed the authenticity of the finding, strengthening its scientific significance.
This historic discovery, published in peer reviewed international journal, is the result of a collaborative effort of clinicians and researchers including Sohrab Shakeel, Sandeep Kadam, Sameer Pawar, Dhyey Pandya, Pragathi Kamath, Rahul Dawre, Kanchan Sakharkar, Abhinav Kachare, Sangeeta Chivale, Suvidha Sardar, Abhilash Yamavaram, Poonam Mane, Prakash Gambhir, Parag M. Tamhankar and Salil Vaniawala.
Acknowledging the scientific contribution, Dr Eknath Pawar, Dean of Sassoon Hospital, formally congratulated Dr Arti Kinikar along with her dedicated pediatrics and neonatology team.
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Dr Pawar noted that such discoveries highlight how government medical colleges can produce research of global relevance and scientific excellence. “It establishes Sassoon Hospital NICU as a centre of excellence in neonatal research along with the Clinical Genetic Centre of Excellence,” Dr Pawar added.
On NDM, why it matters and how precise genetic diagnosis is important
Neonatal diabetes mellitus (NDM) is a rare metabolic disorder marked by high blood glucose levels (hyperglycemia) appearing within the first six months of life. Although NDM is typically caused by single-gene mutations, the MS4A6A gene—previously associated with immune regulation and calcium signaling—has not been reported in connection with this condition.
With an estimated incidence of one in 90,000-160,000 live births it is classified in two main groups permanent neonatal diabetes, which requires lifelong treatment and transient neonatal diabetes mellitus where the hyperglycemia spontaneously resolves, typically within the first few months but carries a high risk of relapse in later life.
However a subset of NDM cases remain without a molecular diagnosis, researchers have said in the report Hence a precise genetic diagnosis is important as it informs prognosis and therapy. According to Dr Kinikar, management must now focus on the high lifetime risk of relapse, particularly during metabolic stress. “Parents have been educated on ‘sick day’ management and long term surveillance is mandatory.
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