Rett syndrome: think outside the (skull) box
Emilie Borloz, Laurent Villard, Jean‐Christophe Roux
Abstract
(methyl CpG binding protein 2) gene, it is the second leading genetic cause of intellectual disability in girls after Down syndrome. RTT affects not only neurological function but also a wide array of non-neurological organs. RTT-related disorders involve abnormalities of the respiratory, cardiovascular, digestive, metabolic, skeletal, endocrine, muscular, and urinary systems and immune response. Here, we review the different aspects of RTT affecting the main peripheral groups of organs and sometimes occurring independently of nervous system defects.
Topics & Concepts
Rett syndromeMECP2Neurodevelopmental disorderIntellectual disabilityEndocrine systemMedicineMuscular systemGenetic disorderCentral nervous systemNeuroscienceBioinformaticsDiseaseBiologyInternal medicineAutismPsychiatryGeneticsGenePhenotypeHormoneGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchAdenosine and Purinergic Signaling