10 months ago
Rare USP18 Gene Mutation Linked to Childhood Neurological Decline
Doctors in India found a rare problem in a gene called USP18 that can cause serious brain issues in children.
This problem makes the body's defense system too strong, which can hurt the brain.
The doctors studied an 11-year-old girl who had fevers, seizures, and other brain problems since she was a baby.
They used special tests to find the gene problem, which helps them understand and treat the condition better.
This discovery is important because it can help doctors recognize early signs of the problem and give the right treatment.
It also gives hope to families who were looking for answers.
Researchers identified a rare USP18 gene mutation linked to recurrent neurological decline in children.
The mutation is associated with Pseudo-TORCH syndrome type 2, a rare inherited condition affecting brain growth and function.
The USP18 gene regulates the body's immune response, and its mutation causes excessive inflammation harming the brain.
The research documented a previously unreported variant, c.358C>T (p.Pro120Ser), expanding clinical understanding of the syndrome.
The discovery was made through exome sequencing with mitochondrial genome sequencing in an 11-year-old girl with severe neurological symptoms.
- Who
- Researchers from Indira Gandhi Institute of Child Health, Ramjas College, University of Delhi, and Redcliffe Labs
- What
- Identified a rare USP18 gene mutation linked to recurrent neurological decline in children
- Where
- India (first documented case in India)
- When
- The research was published in the journal Clinical Dysmorphology
- Why
- To understand the underlying cause of recurring neurological problems in an 11-year-old girl
Key facts
- Gene Mutation
- USP18
- Condition
- Pseudo-TORCH syndrome type 2
- Symptoms
- Febrile encephalopathy, seizures, delayed development, small head size, brain calcium deposits
- Testing Method
- Exome sequencing with mitochondrial genome sequencing
- Research Team
- Indira Gandhi Institute of Child Health, Ramjas College, University of Delhi, Redcliffe Labs
- Journal
- Clinical Dysmorphology
- Mutation Variant
- c.358C>T (p.Pro120Ser)
Quotes
Dr. Vykuntaraju K. Gowda
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health (IGICH)
“The finding will help us avoid unnecessary treatments, provide precise therapy, and most importantly, guide families through informed genetic counselling. Our research shows how timely genetic insights can change the course of rare neurological disorders, offering hope where answers were once unknown.”
thehansindia.com
“The discovery reinforces the power of clinical intuition backed by advanced genetic testing. For years, we treated symptoms without a definitive answer, but identifying this novel USP18 mutation has transformed not just the diagnosis, but the child’s future.”
thehansindia.com
Dr Himani Pandey
One of the researchers
“The case is also the first documented case of USP18-related disease presenting with recurrent febrile encephalopathy.”
thehansindia.com