Researchers Solve Mystery of Uner Tan Syndrome with Targeted Next-Generation Sequencing Using Roche NimbleGen Sequence Capture and 454 Sequencing Systems

摘要

A team of researchers from leading universities in Turkey and the United States have reported that they have identified the genetic mutation responsible for the Uner Tan Syndrome (UTS) using advanced genetic capture and sequencing technologies from Roche. The combined genomic technologies enabled the team of scientists to identify the causative mutation of this debilitating disease after years of mystery. The study was presented by Suleyman Gulsuner, M.D. from Bilkent University, Turkey during the European Human Genetics Conference recently held in Gothenburg, Sweden at which he was awarded the prestigious Isabelle Oberle Award for outstanding work in the field of genetics of mental retardation.Uner Tan Syndrome is a debilitating condition that causes those affected to walk with a quadruped gait, using their feet and the palms of their hands while also suffering from severe mental retardation. This syndrome attracted worldwide attention and was featured in the 2006 BBC2 documentary The Family That Walks On All