Indian Researchers Identify Rare Gene Mutation Linked to Child’s Neurological Decline

In a significant medical development, researchers in India have identified a rare mutation in the USP18 gene that is associated with neurological decline in children. This discovery marks the first documented case of its kind in India and contributes to the understanding of pseudo-TORCH syndrome type 2, an extremely rare inherited disorder reported in only 11 cases globally.

The study was conducted by the Indira Gandhi Institute of Child Health in collaboration with Ramjas College of the University of Delhi and Redcliffe Labs. The researchers found that the identified mutation leads to an overactive immune response, which inadvertently harms the brain rather than providing protection. This condition often presents symptoms similar to congenital infections, despite the absence of any actual infection.

The case at the centre of this breakthrough involved an 11-year-old girl from Bengaluru who has faced recurrent febrile encephalopathy, seizures, developmental delays, and progressive calcium deposits in her brain since infancy. After years of uncertainty, advanced exome and mitochondrial genome sequencing unveiled the previously unknown USP18 mutation.

“This breakthrough demonstrates how advanced genomics, combined with strong clinical insight, can fundamentally change a child’s trajectory,” said Aditya Kandoi, Founder and CEO of Redcliffe Labs. He emphasized that discoveries of this nature push the boundaries of precision medicine in India.

Dr. Himani Pandey, Lab Head of Genomics at Redcliffe Labs, highlighted the significance of this finding, stating, “This is the first documented case of a USP18-related disease presenting with recurrent febrile encephalopathy.” She noted that their expertise in advanced sequencing is crucial for solving complex medical mysteries that have persisted for years.

The implications of this research extend beyond the individual case. The findings enrich global medical literature and underline the necessity for early genetic testing in children exhibiting unexplained neurological symptoms. This breakthrough not only offers clearer guidance for affected families but also supports the development of more targeted care strategies in the future.

The study’s publication in Clinical Dysmorphology adds to the growing body of knowledge surrounding rare genetic disorders and their implications for treatment. The collaborative efforts of the research teams reflect a commitment to advancing medical science and improving health outcomes for children facing such challenging conditions.