Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
We report a 21 year-old girl with classical Rett syndrome (RS) based on clinical diagnosis. The molecular testing of MECP2 gene revealed that the patient is homozygous for a de novo 473C > T mutation, causing the T158M amino acid change. Chromosome analysis showed a normal karyotype, and the haplotype analysis ruled out the possibility of parental disomy or microdeletion in MECP2 gene. Cultured fibroblast analysis reveals a mosaic for the mutation. This is a documented case of a homozygous female with RS.
Karall
Daniela
D
Clinical Department of Pediatrics, Medical University Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria. daniela.skladal@i-med.ac.at
Haberlandt
Edda
E
Scholl-Bürgi
Sabine
S
Baumgartner
Sara
S
Naudó
Montserrat
M
Martorell
Loreto
L
D000328:Adult; D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2