title: Expanding the clinical picture of the MECP2 Duplication syndrome.
abstract: Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers and clinicians on individuals with Rett syndrome and MECP2 associated disorders, was used as the data source. Data were available on 56 cases (49 males and 7 females) with MECP2 Duplication syndrome. Median age at ascertainment was 7.9 years (range: 1.2-37.6 years) and at diagnosis 3.0 years (range: 3 weeks-37 years). Less than a third (29%) learned to walk. Speech deterioration was reported in 34% and only 20% used word approximations or better at ascertainment. Over half (55%) had been hospitalised for respiratory infections in the first 2 years of life. Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. Following the recent demonstration of phenotype reversal in a mouse model of MECP2 Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies.
authors.affiliation: Telethon Kids Institute, University of Western Australia, Perth, Australia.
authors.forename: Z
authors.initials: Z
authors.lastname: Lim
authors.affiliation: Telethon Kids Institute, University of Western Australia, Perth, Australia.|School of Physiotherapy and Exercise Science, Curtin University, Perth, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Downs
authors.affiliation: Telethon Kids Institute, University of Western Australia, Perth, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Wong
authors.affiliation: Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia.|Discipline of Child and Adolescent Health, The University of Sydney, The Children's Hospital at Westmead, Sydney, Australia.|Western Sydney Genetic Program, Sydney Children's Hospitals Network (Westmead), Sydney, NSW, Australia.
authors.forename: C
authors.initials: C
authors.lastname: Ellaway
authors.affiliation: Telethon Kids Institute, University of Western Australia, Perth, Australia.
authors.forename: H
authors.initials: H
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D030541:Databases, Genetic; D005260:Female; D041981:Gastrointestinal Tract / Q000503:physiopathology / Q000601:surgery; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D053208:Kaplan-Meier Estimate; D007805:Language Development Disorders / Q000235:genetics / Q000503:physiopathology; D008297:Male; D038901:X-Linked Intellectual Disability / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D051379:Mice; D010641:Phenotype; D015518:Rett Syndrome / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D055815:Young Adult
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: MECP2 Duplication; intellectual disability; international database; natural history; phenotype; rare disorder