Süleyman Gülsüner, a PhD student at the Department of Molecular Biology and Genetics won the prestigious Isabelle Oberlé Young Investigator Award in the field of genetics of mental retardation, for the identification of the genetic mutation responsible for the Üner Tan Syndrome, in the European Human Genetics Conference in Gothenburg, Sweden. The ESHG presents Young Investigator Awards for outstanding research by young scientists presented as a spoken contribution at the conference.

Patients afflicted with Üner Tan Syndrome walk with a quadruped gait and suffer from mental retardation. The disease attracted worldwide attention and was featured in the 2006 BBC2 documentary The Family That Walks On All Fours. Subsequently, additional families have been reported in Turkey as well as in Iraq, Iran and Brazil, and the initial mapping studies indicated genetic heterogeneity. The scientific group, led by Prof. Tayfun Özçelik at Bilkent University, identified the first gene in 2008. However, the cause of the disorder in the original family featured in the BBC documentary remained unclear and theories regarding the contribution of genetic and environmental factors have been postulated. To identify the genetic basis, Bilkent scientists zoomed down their search to a specific region on chr 17p13 in the genome. But finding the disease causing mutation from the millions of DNA bases within this region was a big challenge.

To overcome the technical difficulties, innovative genome analysis technologies from Roche was used. Specially, Roche NimbleGen’s Sequence Capture technology allowed the candidate region to be extracted from the genome, and the GS FLX sequencer was used to sequence the region in a very high throughput manner. Professor Özçelik’s group sequenced two affected and two carrier individuals with the NimbleGen and 454 technologies. Many mutations in DNA sequence were found in the regions, and the scientists trimmed the list to 4 candidates based on intelligent filtering to look for mutations that affect gene function and also fit into the Mendelian disease mode. Out of these four candidates, three are excluded by further screening 300 healthy controls. At the end, a single mutation was discovered from this study as the genetic basis for Üner Tan Syndrome in the affected family.

https://www.eshg.org/215.0.html