X-Chromosomal Neurodevelopmental Disorders In Females

In recent years, an increasing number of XaEurochromosomal genes were found to be mutated in girls with neurodevelopmental disorders (NDDs). This has blurred the traditional line between XaEurorecessive and XaEurodominant inheritance. Many XaEurochromosomal NDDs are now characterized by a phenotypic spectrum that encompasses both males and females. To date, the mechanisms which result in variable disease manifestations between genders but also among females are only poorly understood. Various factors such as the nature, localisation and "severity" of the respective underlying mutation, as well as XaEuroinactivation in particular, are assumed to contribute. This article provides an overview of the current knowledge on XaEurochromosomal NDDs in females. Additionally, several exemplary new XaEurochromosomal syndromes in females caused by de novo mutations will be described and discussed in more detail.