title: MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.
abstract: Male patients with large duplications of the methyl CpG-binding protein 2 (MECP2) gene have been identified with a characteristic phenotype consisting of infantile hypotonia replaced by spasticity, developmental delay, severe mental retardation and recurrent respiratory infections. Only one patient with MECP2 triplication, with a more severe phenotype has been reported so far. We report three brothers of unrelated parents with MECP2 triplication. Their phenotypic features include macrocephaly with large ears, infantile hypotonia, developmental delay, significant constipation, recurrent severe respiratory tract infections from early childhood, and seizures followed by neurological regression in late childhood. Our cases indicate that MECP2 triplication is similar to or more severe than that of MECP2 duplication syndrome.
authors.affiliation: Department of Paediatric Neurology, St George's Hospital NHS Trust, Blackshaw Road, London SW17 0QT, United Kingdom. tang.ss@gmail.com
authors.forename: Shan S
authors.initials: SS
authors.lastname: Tang
authors.forename: Daphin
authors.initials: D
authors.lastname: Fernandez
authors.forename: Lazarus P
authors.initials: LP
authors.lastname: Lazarou
authors.forename: Rahul
authors.initials: R
authors.lastname: Singh
authors.forename: Penny
authors.initials: P
authors.lastname: Fallon
mesh_terms: D000293:Adolescent; D003248:Constipation / Q000209:etiology / Q000235:genetics; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics; D018450:Disease Progression; D004423:Ear / Q000002:abnormalities; D017809:Fatal Outcome; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D058627:Megalencephaly / Q000209:etiology; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009123:Muscle Hypotonia / Q000209:etiology / Q000235:genetics; D009154:Mutation / Q000502:physiology*; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D012141:Respiratory Tract Infections / Q000209:etiology / Q000235:genetics; D012640:Seizures / Q000209:etiology / Q000235:genetics
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2