India diagnoses first case of Coats plus syndrome
New Delhi: An eight-year-old boy in Bengaluru has been diagnosed with Coats plus syndrome, making him the first Indian diagnosed with the rare disease that leads to multiple organ disorder. Inherited from parents, the syndrome is present in one out of one million people across the globe.
The boy, who showed signs of this rare disease, also suffers from an unusual condition where the heart is on the right side of the body instead of the left.
The team that examined the boy included scientists from the 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.
The researchers started suspecting the patient had the rare disease after they found that the patient’s right eye had a greyish film of fluid on the retina that could lead to vision loss, cysts in the brain due to abnormal deposits of calcium, low bone density, bone marrow suppression, bleeding in the gut and high blood pressure in the blood vessel which goes to the liver.
The patient also had skin pigmentations or spots over the fore arm, an inward squint in the right eye and premature grey hair.
Using whole exome sequencing, a technique used to sequence all the protein-coding genes in a genome, the team identified mutations in genes called CTC1 and HES7.
These mutations led to the shortening of the telomere (a protective casing at the end of the chromosome) and the strange positioning of the heart respectively.
“This study is the first to identify Coats Plus syndrome in India. The results will be useful for genetic diagnosis and carrier detection in families and other patients with similar disease manifestations,” said Mohammed Faruq, one of the scientists who performed the 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 Faruq in a release by IISc. The paper describing the findings of the scientists was published online on Monday in the journal Biomed Central Medical Genetics.