Related Experiment Video
Updated: Aug 20, 2026
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
Konrad Oexle1, Barbara Thamm-Mücke, Thomas Mayer
1Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany. konrad.oexle@mailbox.tu-dresden.de
Unlabelled:
We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).
Conclusion:
Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.
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