Bengaluru boy has rare genetic disorder

BENGALURU: It's a rare genetic disorder with about 1 in 10 lakh persons across the globe falling victim to it. The Coats' Plus syndrome affects multiple organs and impacts vision, blood vessels, brain, bones, etc. And there's a case in Bengaluru, apparently a first for India. Scientists from Nimhans and IISc in Bengaluru, along with CSIR-Institute of Genomics and Integrative Biology in New Delhi, have identified an 8-year-old boy who showed signs of having this rare disease. The boy also has an unusual occurrence of dextrocardia, where the heart is positioned on the right side of the body. Mohammed Faruq, genomics and molecular medicine, CSIR-Institute of Genomics and Integrative Biology, said studying the boy will be useful for genetic diagnosis and carrier detection in families and other patients with a similar problem. "These findings add to the knowledge of this novel mutation and can be included in the mutation diagnostic panel," he added. When scientists examined the patient, they found that his retina had fluid accumulation which could lead to loss of vision. "We also found calcified cysts in the brain, low bone density, bone marrow suppression, bleeding in the gut, and high blood pressure in the vessel which supplies blood to the liver. The patient also had skin pigmentation called cafe au lait spots over the forearm, inward squint in the right eye and premature grey hair. All these are characteristic of Coats' Plus Syndrome," said a team member. The team used genetic techniques to identify gene mutations which led to the shortening of the telomere, a protective sheath at the tail end of the chromosome, and unusual positioning of the heart. Telomeres protect chromosomes from damage and are thought to control aging in animal cells. First case in 1908: 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. -TOI