Background The term 'Patient Empowerment' (PE) is a growing concept -so in popularity as in application -covering situations where citizens are encouraged to take an active role in the management of their own health. This concept is serving as engine power for increasing the quality of health systems, but a question is still unanswered, 'how PE will be effectively achieved?' Beyond psychological implications, empowerment of patients in daily practice relies on technology and the way it is used. Unfortunately, the heterogeneity of approaches and technologies makes difficult to have a global vision of how PE is being performed.

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Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and FOXG1. However, a subset of RTT patients remains that do not carry any mutation in the described genes. Whole exome sequencing was carried out in a cohort of 21 female probands with clinical features overlapping with those of RTT, but without mutations in the customarily studied genes. Candidates were functionally validated by assessing the appearance of a neurological phenotype in Caenorhabditis elegans upon disruption of the corresponding ortholog gene. We detected pathogenic variants that accounted for the RTT-like phenotype in 14 (66.6 %) patients. Five patients were carriers of mutations in genes already known to be associated with other syndromic neurodevelopmental disorders. We determined that the other patients harbored mutations in genes that have not previously been linked to RTT or other neurodevelopmental syndromes, such as the ankyrin repeat containing protein ANKRD31 or the neuronal acetylcholine receptor subunit alpha-5 (CHRNA5). Furthermore, worm assays demonstrated that mutations in the studied candidate genes caused locomotion defects. Our findings indicate that mutations in a variety of genes contribute to the development of RTT-like phenotypes.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-016-1721-3) contains supplementary material, which is available to authorized users.