Prime Highlight
- Indian researchers have discovered a rare mutation in the USP18 gene in an 11-year-old girl, marking the first documented case of this condition in India.
- The finding expands global understanding of pseudo-TORCH syndrome type 2 and highlights the growing impact of precision diagnostics in rare disease care.
Key Facts
- The disorder has been reported in only 11 cases worldwide, and the new variant was identified using advanced exome sequencing and mitochondrial genome analysis.
- The case was investigated by teams from the Indira Gandhi Institute of Child Health, Ramjas College, and Redcliffe Labs, with results published in Clinical Dysmorphology.
Background
Indian scientists discovered a rare mutation in the USP18 gene in a young girl who had repeated neurological decline. This is the first reported case of this condition in India. The discovery provides new insight into pseudo-TORCH syndrome type 2, an inherited disorder previously seen in only 11 cases worldwide.
A team from the Indira Gandhi Institute of Child Health, together with researchers from Ramjas College and Redcliffe Labs, discovered the breakthrough while studying long-term neurological problems in an 11-year-old patient. Since infancy, the child had repeated episodes of fever-related unconsciousness, seizures, delayed development, and a small head. Over time, brain scans also showed increasing calcium buildup in several areas.
The USP18 gene usually controls inflammation by managing the immune system. When the gene malfunctions, it overactivates the immune system and damages brain tissue. Researchers used advanced exome sequencing and mitochondrial genome analysis to find a new mutation, finally explaining the problem.
The findings, published in Clinical Dysmorphology, add a new genetic variant to global medical literature and expand knowledge of this extremely rare disorder. Experts involved in the study said the case demonstrates the growing role of precision diagnostics in solving complex medical problems.
Redcliffe Labs CEO Aditya Kandoi said the discovery shows how genomics can change the course of rare disease care. Dr Himani Pandey, who leads genomics at Redcliffe Labs, noted that this is the first reported instance of USP18-related disease presenting with recurrent febrile encephalopathy.
Researchers said early genetic testing can guide treatment decisions and support families facing unexplained neurological conditions. The study is expected to help doctors better recognise similar cases in the future.
