Manipal :
The clinicians and researchers at Kasturba Medical College (KMC), 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 details of the discovery, team leader Dr Girish Katta, professor and head, department 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 brothers had some unknown disorder and so kept working to identify genetic basis,” he added. “Shared genes were first identified by chromosomal microarray and then we performed whole exome sequencing to identify shared genetic defect. German collaborators performed bioinformatic analysis. Proof of causation of disease by EXOC6B gene will require reporting of more patients with similar condition, he added.
Meanwhile, surgical team lead by Dr Hitesh Shah operated on the brothers and they are now mobile and even go to school. The team’s focus was to detect genetic cause of rare disorders. Dr Hitesh is specialized in correcting pediatric bone deformities. Other members of research team are – Dr Ashwin Dalal and Dr Kerstin Kutsche, both adjunct visiting professors of KMC, Manipal.
Vinod Bhat, VC, 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”. Manipal University has a MoU with University of Hamburg on research collaboration for past two years, said Poornima Baliga, Dean KMC, Manipal. Indian Council of Medical Research funded the work. To facilitate research, KMC has established a Central Research Laboratory, she added.
source: http://www.timesofindia.indiatimes.com / The Times of India /News Home> City> Mangalore / by Jaideep Shenoy, TNN / January 12th, 2016