title: Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
abstract: Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. Maternally inherited duplications on 15q11-q13 are found in a fraction of autistic children suggesting that an abnormal dosage of gene(s) within this region might cause susceptibility to autism. Now we show that three Rett patients are carriers of both a MECP2 mutation and a 15q11-q13 rearrangement, suggesting that there might be a relationship between autism-related genes and the MECP2 gene.
authors.affiliation: Medical Genetics, University of Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Longo
authors.forename: Luisa
authors.initials: L
authors.lastname: Russo
authors.forename: Ilaria
authors.initials: I
authors.lastname: Meloni
authors.forename: Iolanda
authors.initials: I
authors.lastname: Ricci
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Carmela Tiziana
authors.initials: CT
authors.lastname: Giordano
authors.forename: Roberto
authors.initials: R
authors.lastname: Canitano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Hayek
authors.forename: Michele
authors.initials: M
authors.lastname: Zappella
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Fiorella
authors.initials: F
authors.lastname: Gurrieri
mesh_terms: D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020161:Physical Chromosome Mapping; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D017931:DNA Primers; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins