CELL LINE AND DNA BANK OF RETT SYNDROME AND OTHER X-LINKED MENTAL RETARDATION

Mental retardation (MR) is the most frequent cause of serious handicap in humans with an estimated total prevalence of 1-1,5% in the general population. It is calculated that X-linked MR (XLMR) may account for about 20-25% of mentally retarded males. Up to now, 42 genes have been found involved in XLMR, comprising MECP2 gene which is responsible for about 70-80% of Rett syndrome (RTT) cases. However, many XLMR condition still have an unknown cause, and the number of XLMR genes is likely to grow to more than 100 in the next years. This high heterogeneity makes it essential to analyze a large number of patients when studying possible candidate XLMR genes. To answer this necessity, we plan to establish a wide collection of DNA and cell lines from patients affected by (RTT) and other forms XLMR. All samples will be inserted in an on-line catalogue and will be made available upon request to researchers involved in projects aimed at the understanding of the molecular basis of RTT and other forms of XLMR. The collection of a large number of samples available to the scientific community should help the work of researchers working on XLMR giving impulse to the identification of the genes involved in the pathogenesis of the great percentage of XLMR for which the causative genes is still unknown.