Manipal University discovers new bone disease and the causative genetic defect

Manipal: The clinicians and researchers at Kasturba Medical College, Manipal University, Manipal and Center for DNA Fingerprinting and Diagnostics, Hyderabad in collaboration with scientists of University of Hamburg Germany have discovered a new genetic condition and the likely genetic defect that causes it. The work was published in the online edition of the European Journal of Human Genetics.

Giving the details of the discovery, team leader Dr Girish Katta, Professor and Head Dept of Clinical Genetics Kasturba Hospital, Manipal said that the patients with this condition have joint dislocations at birth and have a generalized bone disease. “It was about six years ago that Dr Hitesh Shah and I came across two brothers with the disease. There are very few conditions with such severe dislocation of joints at birth. In addition, both had lax joints,” he said.

“Ever since seeing the two, we realized that the brothers had some unknown disorder and so kept working to identify the genetic basis,” Dr Girish added. “Shared genes were first identified by chromosomal microarray and then we performed whole exome sequencing to identify the shared genetic defect. The German collaborators performed bioinformatic analysis. The proof of causation of the disease by EXOC6B gene would require reporting of more patients with similar condition, he added.

Meanwhile the surgical team lead by Dr Hitesh Shah operated on the two brothers and now they are now mobile and even go to school. The team’s focus was to detect genetic cause of rare disorders. Dr Hitesh Shah is specialized in correcting pediatric bone deformities. Other members of the research team are; Dr Ashwin Dalal and Dr Kerstin Kutsche, both adjunct visiting professors of KMC, Manipal.

Talking about the discovery, Dr H Vinod Bhat, Vice Chancellor of Manipal University said, “This is one of the very few new genes discovered by Indians. As of today, we have diseases identified for less than quarter of known genes”. Dr (Col) M Dayananda, medical superintendent said Kasturba Hospital is proud of its genetic services and the recent initiatives at the center have made it a state of art facility for all genetic disorders.

Manipal University has a memorandum of understanding with University of Hamburg, Germany on research collaboration for the past two years,” said Dr Poornima Baliga, Dean KMC, Manipal. The work was funded by Indian Council of Medical Research. To facilitate research, Kasturba Medical College, Manipal has established a Central Research Laboratory, she added.

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