[Clinical and molecular genetic findings in four girls with Rett syndrome].
We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000 girls. Recently, the MeCP2-gene encoding the methyl-CpG-binding protein 2 has been shown to be mutated in 80 percent of girls with Rett Syndrome, studied so far. In our patients with Rett syndrome two common mutations of the MeCP2-gene, R168X (n=2) and T158M were found. In the 4th patient a novel "missense" mutation R294G was identified.
Deutscher
K
K
Universitätsklinik und Poliklinik für Kinder und Jugendliche, Leipzig.
Deutscher
J
J
Bergmann
L
L
Tefs
K
K
Reichwald
K
K
Schuster
V
V
D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005091:Exons; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2; D020125:Mutation, Missense / Q000235:genetics; D009460:Neurologic Examination; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins