AHMEDABAD: Morquio A is a genetic disorder that affects development of bones and spine and reduces lifespan of the person. In Gujarat, a community has prevalence of the disorder at 1 in every 10,000 live births compared to 1 in 20,000 worldwide - indicating double the prevalence. A study by city-based researchers indicated that the disorder is the result of endogamy - the practice of marrying within a community over centuries - and found its origin 450 years ago!
The paper 'The GALNS p.R variant is a probable Gujarati Indian founder mutation causing Mucopolysaccharidosis IVA syndrome' is published recently in BMC Genomics, a journal by Springer Nature. The study was conducted by Harsh Sheth, Premal Naik, Maulin Shah, Riddhi Bhavsar, Aadhira Nair, Frenny Sheth and Jayesh Sheth.
