November 27, 2025 : In a groundbreaking medical development, doctors and genetic researchers in Bengaluru have identified a previously unknown gene variant linked to abnormal brain growth in children. The discovery, made by a team of neurologists and molecular geneticists from a leading Bengaluru-based medical institute, is being hailed as a significant milestone in understanding rare neurodevelopmental conditions.
The newly identified gene variant appears to disrupt normal brain maturation during infancy and early childhood. According to the research team, this mutation is associated with structural abnormalities in the cerebral cortex—the region of the brain responsible for cognition, memory, sensory processing, and voluntary movement. Early findings suggest that the variant may play a critical role in conditions involving microcephaly (reduced brain size) or macrocephaly (unusually enlarged brain).
Dr. Kavitha Menon, the lead neurologist involved in the study, said the discovery came after a series of unusual clinical cases in which children presented with developmental delays, seizures, and atypical head growth patterns. Traditional diagnostic tests, including MRI scans and metabolic screening, failed to provide answers. This prompted the team to conduct advanced whole-exome sequencing, which led to the identification of the novel gene defect.
“We encountered several children who showed unexplained differences in brain growth, and standard tests could not pinpoint the cause,” Dr. Menon explained. “Genomic investigation revealed a shared mutation pattern across these cases, which had never been documented before. This breakthrough has opened a new window into understanding how specific genetic alterations influence brain development.”
The team collaborated with international genetic databases to compare the newly discovered mutation with known variants. Their analysis confirmed that the gene in question—previously thought to be unrelated to brain structure—is indeed directly linked to neural pathway formation. Detailed laboratory studies are underway to determine exactly how this gene regulates cell division, neuron connectivity, and tissue differentiation during early brain formation.
Researchers have named the variant temporarily as BVNX-23, pending peer review and official classification. Early evidence indicates that BVNX-23 may affect the body’s ability to regulate growth factors crucial for neural expansion and synapse formation. Children with the variant show a spectrum of symptoms, ranging from mild learning delays to more severe neurological impairment.
Dr. Aravind G., a molecular geneticist involved in the research, noted that the discovery is only the beginning. “We need further trials and wider population screening to understand how common this variant may be among Indian children,” he said. “There is a possibility that BVNX-23 is underdiagnosed due to lack of genetic testing awareness. Early detection could help families seek timely intervention.”
The study’s findings highlight the growing importance of genomics in Indian healthcare. Bengaluru, often regarded as a biotechnology hub, has been at the forefront of advanced genetic research. With rising cases of unexplained developmental disorders in the country, specialists say this discovery underscores the need for accessible genetic screening and counselling for families.
Parents of affected children have expressed both relief and hope. One mother whose child was part of the study said that she had spent years seeking answers for her son’s developmental challenges. “For the first time, we have clarity. Knowing that a gene mutation is responsible helps us plan better and get the right therapy,” she shared.
Doctors say early signs that may indicate an underlying genetic issue include unusual head growth, delayed milestones, muscle stiffness, seizures, and difficulty with speech or motor coordination. However, they caution families not to panic, as not all developmental delays are genetic in nature. Comprehensive evaluation by a pediatric neurologist is essential.
Healthcare experts believe that with increased awareness, more hospitals may adopt genome sequencing as part of routine diagnosis for complex pediatric neurological cases. The Bengaluru team plans to expand its research to include larger sample sizes and collaborate with global institutions for further validation.
“Understanding these gene variants is a critical step toward personalized medicine,” Dr. Menon added. “In the future, we hope this knowledge will lead to targeted therapies and better outcomes for children affected by such rare genetic conditions.”
As the study undergoes peer review for publication in an international medical journal, researchers remain optimistic that the discovery will drive more investment and focus on pediatric neurology and genetics in India. With early diagnosis and supportive therapies, children with BVNX-23-related disorders can achieve better developmental progress and improved quality of life.
Summary
Bengaluru doctors have discovered a new gene variant linked to abnormal brain growth in children, offering crucial insights into neurodevelopmental disorders and paving the way for early diagnosis and improved therapeutic strategies.