Mon Nov 24 14:36:45 UTC 2025: Here’s a summary and a rewritten news article based on the provided text:
Summary:
A groundbreaking genetic diagnosis has been made at the Indira Gandhi Institute of Child Health in Bengaluru, India. Researchers have identified a novel mutation in the USP18 gene in a 12-year-old girl suffering from a rare condition called pseudo-TORCH Syndrome Type 2. This is the first detailed case report of this specific mutation. The diagnosis, achieved through exome sequencing, was critical in correctly identifying the girl’s condition, allowing doctors to discontinue ineffective treatments and begin a targeted therapy (JAK inhibitor Baricitinib). Previously, the girl had suffered for years from recurrent fevers, seizures, and other complications. The discovery also allows for genetic counseling and testing in future pregnancies for the family and could help diagnose and treat other children with similar symptoms early on.
News Article:
Indian Doctors Identify Novel Gene Mutation in Rare Disease Case, Offering Hope for Treatment
Bengaluru, India – November 24, 2025 – Doctors at the Indira Gandhi Institute of Child Health in Bengaluru have made a significant breakthrough in diagnosing and treating a rare genetic disorder. A paper published in Clinical Dysmorphology details the first documented case of a novel mutation in the USP18 gene in a 12-year-old girl suffering from pseudo-TORCH Syndrome Type 2.
The girl, who had been experiencing recurrent fevers, seizures, and developmental delays since infancy, had baffled doctors for years. Traditional tests were inconclusive, leading to a series of ineffective treatments. However, through advanced exome sequencing, researchers identified a previously undetected variant in exon four of the USP18 gene.
“We had suspected pseudo-TORCH syndrome, but standard tests were not revealing,” said Dr. Vykuntaraju K. Gowda, lead author of the study and paediatric neurologist at the institute. “This genetic diagnosis was critical in understanding the root cause of her illness.”
Pseudo-TORCH mimics the symptoms of TORCH syndrome, a group of congenital infections, but occurs in the absence of infection. The newly identified mutation has only been documented in a handful of other cases worldwide, with a high mortality rate.
Co-author Himani Pandey, lab head, genomics, Redcliffe Labs, explained, “Genetic analysis among the parents revealed that both parents, were asymptomatic, but had a copy of the abnormal gene, but the child had inherited both copies. It is possible to counsel the parents, and during a subsequent pregnancy test the child through amniocentesis to test for this genetic defect”.
The diagnosis has allowed doctors to discontinue unnecessary treatments and begin targeted therapy with a JAK inhibitor, Baricitinib. The girl’s condition has significantly improved, with fewer hospital visits and better symptom management. The entire genetic testing was done free of cost for the family.
The discovery not only provides hope for the young patient but also opens doors for genetic counseling and prenatal testing for families with a history of the condition. Early diagnosis and treatment, guided by this new genetic understanding, could significantly improve outcomes for other children affected by this rare disorder. The researchers hope their findings will raise awareness and facilitate quicker diagnoses for similar cases globally.
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