NEW DELHI: Indian researchers have identified a rare USP18 gene mutation linked to recurrent neurological decline in children.
The rare USP18 gene mutation offers crucial insights into a neurological disorder previously documented in only 11 cases worldwide and now reported for the first time in India.
According to the team from Indira Gandhi Institute of Child Health, who conducted the research in collaboration with Ramjas College, University of Delhi, and Redcliffe Labs, pseudo-TORCH syndrome type 2 is a very complicated rare inherited condition that affects how a child’s brain grows and functions.
Children with this disorder often show severe neurological symptoms that resemble congenital infections, but without any actual infection.
The USP18 gene usually helps regulate the body’s immune response, preventing excessive inflammation. When this gene does not work correctly, the body’s defense system becomes overactive and begins to harm the brain.
The research, published in Clinical Dysmorphology, said that the study adds valuable information to the small number of known cases worldwide and introduces a new genetic variant to medical literature.
The researchers findings came from the case of an 11-year-old girl who began experiencing symptoms from infancy, including repeated episodes of febrile encephalopathy – fever-linked unconsciousness, seizures, delayed development, and a small head size.
Over the years, her scans also showed increasing calcium deposits in different parts of the brain.
With only 11 cases reported worldwide, this study adds a meaningful contribution to global medical knowledge.
To understand the underlying cause of these recurring neurological problems, advanced genetic testing was recommended.
Through a focused DNA test called exome sequencing with mitochondrial genome sequencing, the team was able to identify a previously unknown change in the USP18 gene, offering clarity after years of uncertainty.
According to Aditya Kandoi, Founder and CEO, Redcliffe Labs, “We believe the future of diagnostics lies in uncovering answers that were once thought impossible.”
“This breakthrough is more than a scientific milestone; it demonstrates how advanced genomics, when paired with deep clinical insight, can fundamentally change a child’s trajectory,” he said.
“Discovering a novel USP18 variant is not just an academic achievement; it reflects our commitment to pushing the boundaries of precision medicine in India,” he added.
“Complex neurological conditions often leave families navigating uncertainty for years, and breakthroughs like this help bring clarity where it matters most. I am proud of our team and our collaborators for setting a new benchmark in rare disease diagnostics. This is the kind of work that strengthens India’s leadership in genomic innovation and moves us closer to a future where no medical mystery remains unsolved.”
Dr Himani Pandey, Lab Head, Genomics, Redcliffe Labs, said, “We remain committed to expanding our specialized diagnostic capabilities to address some of the most challenging medical conditions seen in clinical practice.”
“This case is also the first documented case of USP18-related disease presenting with recurrent febrile encephalopathy. The successful diagnosis reflects the depth of expertise our team brings through advanced tests such as exome sequencing. These capabilities enable us to solve complex and often long-standing medical mysteries,” he added.
This study adds valuable information to the small number of known cases worldwide and introduces a new genetic variant to medical literature. By confirming the diagnosis and understanding the child’s long-term illness pattern, the research helps guide future care for similar patients and supports families with clearer answers.
The findings highlight the importance of early genetic testing in children with unexplained neurological symptoms and open the door for more targeted approaches to care in the future.
