Third major gene-of-effect in hyperekplexia, GLRB, discovered

Quick to realise that a two-year-old girl admitted with them for problem of seizures and for getting started on touch was suffering from hyperekplexia and not epilepsy, the doctors at Sir Ganga Ram Hospital here sent her samples for further study abroad and these have now become part of a path-breaking research that has led to the discovery of a new gene.

The events that led to it

As per senior consultant in the Department of Genetics at SGRH, Dr. Ratna Dua Puri, when the child was brought in, the clinical diagnosis had led them to confirm hyperekplexia. “The genetics of this disorder is known and can be inherited. We sent her samples, along with our findings, for a molecular analysis to a research group which was working on the genetics of this disease. “At that time four years ago, there were only two known genes for it and we did not have mutation in the known genes. However, as it turned out, this child had a unique disorder and similarly around nine other patients across the world had similar mutations which led the research group to identify a change and the new gene is now called GLRB,” says Dr. Puri.

Rare disorder

Stating that this was a rare disorder in which the child used to get startled at even a small touch, Dr. Puri said it can run in families and can occur again. So, she said, the discovery of the new gene offers greater hope of better treatment to such patients.

The patient, who is now six, was prescribed medication and her condition has improved with it. “But she still has episode trips and we are confident that our work would lead to better understanding of her disorder and its treatment,” Dr. Puri adds.

Research on in premier institutes

As per the research, GLRB is the third major gene-of-effect in hyperekplexia. The main research in the subject has been done by a group of premier medical institutes while the “corresponding author” is Dr. Seo-Kyung Chung of Institute of Life Sciences College of Medicine, Swansea University, United Kingdom.

Hyperekplexia is a severe paroxysmal neuromotor disorder that typically presents soon after birth or in the first week of life. It involves exaggerated startle response upon tactile or auditory stimulus.

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