Health and Me

Itisha Arya

Can One Gene Mutation Predict Which Children Will Face Repeated Neurological Problems? Here Is What Doctors Found

gene mutation usp18 gene

A team of Indian scientists has uncovered a rare mutation in the <span>USP18 gene</span> that appears to drive repeated neurological deterioration in children. This unusual mutation offers important clues about a disorder previously seen in only 11 cases worldwide, now identified for the first time in India. 

The work was carried out by specialists at the Indira Gandhi Institute of Child Health in Bangalore, along with researchers from Ramjas College, University of Delhi, and Redcliffe Labs. But what does this neurological condition involve?

The study, featured in the journal Clinical Dysmorphology, describes a never-before reported variant, c.358C&gt;T (p.Pro120Ser), adding to what is known about Pseudo-TORCH syndrome type 2.

<h2>What Is Pseudo-TORCH Syndrome Type 2?</h2>

Pseudo-TORCH syndrome type 2 is an extremely uncommon inherited disorder that affects how a child’s brain forms and functions. The symptoms often resemble those caused by congenital infections, though no actual infection is present. 

According to the researchers, it is marked by serious brain abnormalities such as intracranial calcifications, a smaller-than-usual head size, and white matter injury. These problems can lead to seizures, stiffness of the limbs, and often early death. The condition results from recessive mutations in genes like USP18.

The USP18 gene provides instructions for making the Ubiquitin-Specific Peptidase 18 protein, which helps regulate the body’s type I interferon response. It performs two major tasks. It works as an enzyme that removes ISG15 tags from certain proteins, and it also dampens interferon signaling by attaching to the IFNAR2 receptor. Disturbances in this gene are linked to interferon-related disorders and some cancers, according to the National Institutes of Health.

In a healthy state, USP18 keeps the immune response balanced so the body does not produce unnecessary inflammation. When the gene is altered, this control weakens and the immune system reacts in an exaggerated way, which can damage the developing brain.

“The finding shows how clinical experience combined with advanced genetic tools can change outcomes. For years, we treated symptoms without a clear explanation, but identifying this new USP18 mutation has changed both the diagnosis and the child’s path forward,” said Dr. Vykuntaraju K. Gowda from the Department of Pediatric <span>Neurology</span>, IGICH, speaking to IANS.

The investigation began with an 11-year-old girl who had shown symptoms since infancy, including repeated episodes of febrile encephalopathy, meaning fever-associated unconsciousness, along with seizures, developmental delays, and microcephaly. Her brain scans over time showed growing calcium deposits in several regions.

To trace the cause of her recurring neurological episodes, the doctors advised detailed genetic analysis. Using exome sequencing combined with mitochondrial genome testing, the team uncovered a previously unknown alteration in the USP18 gene, finally providing an explanation after years of uncertainty.

This new mutation changes the USP18 protein’s shape, reducing its ability to keep inflammation under control. The overly active immune response offers a clear reason for the child’s repeated fever-linked neurological decline. Recognising this link is important because it helps clinicians spot early signs, avoid unnecessary infection-related treatments, and pay closer attention to conditions caused by immune overactivity instead.

“This is also the first reported instance of a USP18-related disorder showing up as recurrent febrile encephalopathy,” said Dr. Himani Pandey, part of the research team.

The study underscores the value of early genetic testing in children with unexplained neurological issues and suggests new possibilities for more focused care in the years ahead.

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A team of Indian scientists has uncovered a rare mutation in the USP18 gene that appears to drive repeated neurological deterioration in children. This unusual mutation offers important clues about a disorder previously seen in only 11 cases worldwide, now identified for the first time in India. The work was carried out by specialists at the Indira Gandhi Institute of Child Health in Bangalore, along with researchers from Ramjas College, University of Delhi, and Redcliffe Labs. But what does this neurological condition involve?The study, featured in the journal Clinical Dysmorphology, describes a never-before reported variant, c.358C>T (p.Pro120Ser), adding to what is known about Pseudo-TORCH syndrome type 2.What Is Pseudo-TORCH Syndrome Type 2?Pseudo-TORCH syndrome type 2 is an extremely uncommon inherited disorder that affects how a child’s brain forms and functions. The symptoms often resemble those caused by congenital infections, though no actual infection is present. According to the researchers, it is marked by serious brain abnormalities such as intracranial calcifications, a smaller-than-usual head size, and white matter injury. These problems can lead to seizures, stiffness of the limbs, and often early death. The condition results from recessive mutations in genes like USP18.What Is The USP18 Gene?The USP18 gene provides instructions for making the Ubiquitin-Specific Peptidase 18 protein, which helps regulate the body’s type I interferon response. It performs two major tasks. It works as an enzyme that removes ISG15 tags from certain proteins, and it also dampens interferon signaling by attaching to the IFNAR2 receptor. Disturbances in this gene are linked to interferon-related disorders and some cancers, according to the National Institutes of Health.In a healthy state, USP18 keeps the immune response balanced so the body does not produce unnecessary inflammation. When the gene is altered, this control weakens and the immune system reacts in an exaggerated way, which can damage the developing brain.“The finding shows how clinical experience combined with advanced genetic tools can change outcomes. For years, we treated symptoms without a clear explanation, but identifying this new USP18 mutation has changed both the diagnosis and the child’s path forward,” said Dr. Vykuntaraju K. Gowda from the Department of Pediatric Neurology, IGICH, speaking to IANS.What Doctors Found?The investigation began with an 11-year-old girl who had shown symptoms since infancy, including repeated episodes of febrile encephalopathy, meaning fever-associated unconsciousness, along with seizures, developmental delays, and microcephaly. Her brain scans over time showed growing calcium deposits in several regions.To trace the cause of her recurring neurological episodes, the doctors advised detailed genetic analysis. Using exome sequencing combined with mitochondrial genome testing, the team uncovered a previously unknown alteration in the USP18 gene, finally providing an explanation after years of uncertainty.This new mutation changes the USP18 protein’s shape, reducing its ability to keep inflammation under control. The overly active immune response offers a clear reason for the child’s repeated fever-linked neurological decline. Recognising this link is important because it helps clinicians spot early signs, avoid unnecessary infection-related treatments, and pay closer attention to conditions caused by immune overactivity instead.“This is also the first reported instance of a USP18-related disorder showing up as recurrent febrile encephalopathy,” said Dr. Himani Pandey, part of the research team.The study underscores the value of early genetic testing in children with unexplained neurological issues and suggests new possibilities for more focused care in the years ahead.