Clinical and molecular contributions to the understanding of X-linked mental retardation

摘要: X-linked mental retardation (XLMR) was first recognized in the 1940s, long before any human genes had been mapped. It is now estimated that XLMR has a prevalence of 2.6 cases per 1,000 population, accounting for over 10% all retardation. likely 150 are associated with XLMR. Fragile X syndrome, most common form XLMR, about 1 4,000 males. Clinically, exists syndromic (mental other somatic, neurological, behavioral, or metabolic findings) and nonsyndromic without distinguishing features) forms. However, recent findings have caused this distinction to become blurred as mutations some found both Progress gene identification allowed insight into various pathways cellular activities involved developing cognitive functions. The involve signaling pathways, transcription factors, cytoskeletal organization, cell adhesion migration, maintenance membrane potential.