India's first case of rare genetic disorder identified in B'luru

India's first case of rare genetic disorder identified in B'luru

The first Indian case of Coats plus syndrome, a rare genetic disorder, has been identified in Bengaluru by a team of researchers.

This interdisciplinary team consisted of scientists from National Institute of Mental Health and Neuro Sciences (Nimhans) and Indian Institute of Science (IISc) in Bengaluru, and CSIR-Institute of Genomics and Integrative Biology in New Delhi.

Dr Pramod K Pal, professor, Department of Neurology, Nimhans, said that it was recently found that an eight-year-old boy from the southern part of the country was identified with a gene causing the coats plus syndrome. “In India, there is not much awareness about it. This rare disorder has an estimated prevalence of one in a million people across the globe and affects multiple organs,” he added.

“He had a number of problems since the time he was 18 months old. There was a problem in his vision,” said Dr Pal.

“Later, ultra-sound and chest X-Ray were done and a test at IISc confirmed the presence of the gene.”

He said that it was mostly prevalent in cases of consanguineous marriages. However, in this case, the parents said that they were not related by blood.

The child’s retina had fluid accumulation that could lead to loss of vision.

They also found calcified cysts in the brain, low bone density, bone marrow suppression, bleeding in the gut and high pressure in the blood vessel which supplies blood to the liver.

Skin pigmentations

The patient also had skin pigmentations called ‘café au lait’ spots over the forearm, an inward squint in the right eye and premature grey hair. All of these are symptoms of Coats plus syndrome.

The child was referred to Nimhans by a paediatrician. “A year ago, he came with what was presumed to be a brain tumour as there were changes noticed in the MRI.
He also had Dextrocardia, where the heart is positioned on the right side of the body, instead of the left,” said Dr Nethravathi who heads the team of specialists treating the child at Nimhans. He is being treated on a symptomatic basis, doctors said.
This study is the first to identify Coats plus syndrome in India.

Findings

The results will be useful for genetic diagnosis and carrier detection in families and other patients with similar disease manifestations, explained Dr Mohammed Faruq, one of the scientists who performed genetic analysis in this study. “These findings add to the knowledge of the novel mutation in CTC1 as we have described and can be included in the mutation diagnostic panel,” added Dr Faruq.

Their research was published recently in the journal BMC Medical Genetics.

 

Coats plus syndrome

Coats disease was first identified by Scottish doctor George Coats in 1908 to describe an illness of the retina where retinal vessels were found to be under-developed. Under grave circumstances, this could lead to accumulation of pus, causing the retina to detach from the cornea, and lower the chances of the patient’s survival.

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