title: Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.
abstract: Mutations in the MECP2 gene are known to be associated with Rett Syndrome (RTT) in the large majority of sporadic cases. Four Swedish families with a total of eight RTT patients (two in each family), were screened and found negative for MECP2 mutations. The series included females with both classical and forme fruste phenotypes. Rett syndrome thus might still be complex and genetically multifactorial.
authors.affiliation: Department of Clinical Neuroscience, Karolinska Hospital, Stockholm, Sweden. Fengqing.Xiang@cmm.ki.se
authors.forename: F
authors.initials: F
authors.lastname: Xiang
authors.forename: Y
authors.initials: Y
authors.lastname: Stenbom
authors.forename: M
authors.initials: M
authors.lastname: Anvret
authors.forename: B
authors.initials: B
authors.lastname: Hagberg
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics*; D013548:Sweden
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins