title: Rett syndrome: clinical manifestations in males with MECP2 mutations.
abstract: Rett syndrome is a neurodevelopmental disorder characterized by cognitive and adaptive regression with autistic features, loss of acquired skills, and stereotypic hand movements that almost exclusively affects females. It is an X-linked dominant disorder, with presumed lethality in males. Nonetheless, there are a few descriptions of males suspected of having Rett syndrome. With the recent discovery that the MECP2 gene is responsible for most cases of Rett syndrome, it is possible to molecularly assess cases of affected males by direct sequencing analysis. We describe an Israeli family consisting of a female having classic Rett syndrome and a male sibling with severe neonatal encephalopathy. Molecular analysis revealed that both sister and brother have the same MECP2 gene mutation; however, their mother does not. This case, as well as other published studies of males with MECP2 mutations, reveals that the clinical manifestations in viable males vary from neonates with severe encephalopathy to adults with mental retardation and demonstrate genotype-phenotype correlations.
authors.affiliation: Department of Pediatric Neurology, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Bruria Ben
authors.initials: BB
authors.lastname: Zeev
authors.forename: Yuval
authors.initials: Y
authors.lastname: Yaron
authors.forename: N Carolyn
authors.initials: NC
authors.lastname: Schanen
authors.forename: Haika
authors.initials: H
authors.lastname: Wolf
authors.forename: Nathan
authors.initials: N
authors.lastname: Brandt
authors.forename: Nathan
authors.initials: N
authors.lastname: Ginot
authors.forename: Ruth
authors.initials: R
authors.lastname: Shomrat
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D016368:Frameshift Mutation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins