Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
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).


CONCLUSIONS
Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.
Oexle
Konrad
K
Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany. konrad.oexle@mailbox.tu-dresden.de
Thamm-Mücke
Barbara
B
Mayer
Thomas
T
Tinschert
Sigrid
S
D000328:Adult; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006257:Head / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000235:genetics
D002868:Chromosomal Proteins, Non-Histone; D018388:Codon, Terminator; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins