title: MECP2 abnormality phenotypes: clinicopathologic area with broad variability.
abstract: Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our aim was to summarize the clinical picture of deviations in MECP2 at this moment to obtain a comprehensive overview. Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2-deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the right, the most mildly affected subgroup, female asymptomatic carriers. In the center, with dominant numbers, we have placed classic Rett syndrome presentations, together with the late-onset Rett syndrome variant and preserved speech variant. In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations.
authors.affiliation: Department of Clinical Genetics, Göteborg University Sahlgrenska University Hospital, Sweden. anna.erlandson@clingen.gu.se
authors.forename: Anna
authors.initials: A
authors.lastname: Erlandson
authors.forename: Bengt
authors.initials: B
authors.lastname: Hagberg
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics / Q000473:pathology; D001321:Autistic Disorder / Q000235:genetics / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics / Q000473:pathology