What genetic characteristic is associated with Rett Syndrome?

Rett Syndrome is a neurodevelopmental disorder that is primarily caused by mutations in the MECP2 gene, which is located on the X chromosome. This condition predominantly affects females due to its X-linked inheritance pattern. The MECP2 gene plays a crucial role in brain development and function, and its defects lead to the characteristic symptoms of Rett Syndrome, such as loss of purposeful hand movements, speech, and motor skills, along with the development of distinctive hand movements like hand-wringing.

Understanding that Rett Syndrome is specifically tied to a gene on the X chromosome highlights the importance of genetic factors in early childhood development and the manifestation of certain disorders. The association with the X chromosome is also significant when considering inheritance patterns, particularly in how the disorder more commonly presents in females due to having two X chromosomes, whereas males with such mutations often experience more severe manifestations or may not survive infancy. This genetic characteristic is essential for diagnosing and understanding the implications of Rett Syndrome in affected individuals.