title: MECP2 mutation in male patients with non-specific X-linked mental retardation.
abstract: In contrast to the preponderance of affected males in families with X-linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females. The near complete absence of affected males in RTT families has been explained by the lethal effect of an X-linked gene mutation in hemizygous affected males. We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation. These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation.
authors.affiliation: Medical Genetics, Policlinico Le Scotte, Sienna, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Orrico
authors.forename: C
authors.initials: C
authors.lastname: Lam
authors.forename: L
authors.initials: L
authors.lastname: Galli
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: G
authors.initials: G
authors.lastname: Hayek
authors.forename: S F
authors.initials: SF
authors.lastname: Tong
authors.forename: P M
authors.initials: PM
authors.lastname: Poon
authors.forename: M
authors.initials: M
authors.lastname: Zappella
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: V
authors.initials: V
authors.lastname: Sorrentino
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics; D012737:Sex Factors; 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; D012097:Repressor Proteins