title: Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
abstract: 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.
authors: Clinical Department of Pediatrics, Medical University Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria. daniela.skladal@i-med.ac.at
authors: Daniela
authors: D
authors: Karall
authors: Edda
authors: E
authors: Haberlandt
authors: Sabine
authors: S
authors: Scholl-Bürgi
authors: Sara
authors: S
authors: Baumgartner
authors: Montserrat
authors: M
authors: Naudó
authors: Loreto
authors: L
authors: Martorell
mesh_terms: 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
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2