Akademik Veri Yönetim Sistemi
AKYERLİ BOYLU C., Akyerli Boylu T.(Yürütücü)
TÜBİTAK Projesi, 2002 - 2005
Rett Syndrome (RTT) is a progressive X-linked dominant neurodevelopmental disorder, affecting 1/10,000-15,000 females. The disease-causing gene was identified as MECP2 on chromosome Xq28, and mutations have been found in ~80% of patients diagnosed with RTT. We started mutational screening on MECP2, exon 2 and 3, in 52 RTT patients. As a first step, we screened for six known mutations; R106W, P152R, T158M, R306C, R168X, F155S, and one polymorphism; E397K. We found R106W in three patients, P152R in two patients, T158M in four patients, and R306C in four patients. Mutations R168X and F155S were not detected in our patients. Only one patient had E397K polymorphism, who also bears R306C mutation. In exon 3 of MECP2, there are several known deletion type of mutations. By PCR analysis, two patients were found to have ~ 26 bp deletion in exon 3. In order to confirm this mutation, we are performing sequencing analysis at the moment. As a result of this initial screening, MECP2 mutations were identified in ~ 30 % of the Turkish patients diagnosed with RTT. We will further analyze MECP2 by direct DNA sequencing in patients not found to have a mutation by restriction endonuclease analysis.