New Delhi, Nov 27 || A team of Indian researchers has 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, Bangalore, who conducted the research in collaboration with Ramjas College, University of Delhi, and Redcliffe Labs.
Pseudo-TORCH syndrome type 2 is a very 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 defence system becomes overactive and begins to harm the brain.