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Updated: Jul 11, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
Homozygosity for MECP2 gene in a girl with classical Rett syndrome
Daniela Karall1, Edda Haberlandt, Sabine Scholl-Bürgi
1Clinical Department of Pediatrics, Medical University Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria. daniela.skladal@i-med.ac.at
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.
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