title: A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
abstract: Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females. Only one male presenting an MECP2 mutation has been reported; he survived only to age 1 year, suggesting that mutations in MECP2 are male lethal. Here we report a three-generation family in which two affected males showed severe mental retardation and progressive spasticity, previously mapped in Xq27.2-qter. Two obligate carrier females showed either normal or borderline intelligence, simulating an X-linked recessive trait. The two males and the two obligate carrier females presented a mutation in the MECP2 gene, demonstrating that, in males, MECP2 can be responsible for severe mental retardation associated with neurological disorders.
authors.affiliation: Medical Genetics, University of Siena, Policlinico Le Scotte, 53100 Siena, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Meloni
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: I
authors.initials: I
authors.lastname: Longo
authors.forename: F
authors.initials: F
authors.lastname: Mari
authors.forename: F
authors.initials: F
authors.lastname: Rizzolio
authors.forename: P
authors.initials: P
authors.lastname: D'Adamo
authors.forename: K
authors.initials: K
authors.lastname: Denvriendt
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: D
authors.initials: D
authors.lastname: Toniolo
authors.forename: A
authors.initials: A
authors.lastname: Renieri
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D018450:Disease Progression; D004303:Dosage Compensation, Genetic; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005804:Genes, Lethal / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009128:Muscle Spasticity / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012333:RNA, Messenger; D012097:Repressor Proteins