Rare genetic disorder in Indian child caused by new gene mutation

Technology Nov 24, 2025

Indian researchers have found a novel mutation in the USP18 gene that led to a rare disorder called pseudo-TORCH Syndrome Type 2 in an adolescent.
This condition looks like an infection at birth but isn't caused by any virus.
The child, born to related parents, showed early signs like seizures and developmental delays.

Why this matters

Spotting this unique mutation means doctors can give more accurate diagnoses and use targeted treatments like JAK inhibitors (for example, Baricitinib).
It also helps families get the right genetic advice and avoid unnecessary antiviral meds.
The study really highlights how important genetic testing is when kids have unexplained brain or developmental issues that seem infectious but aren't.