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-fronta...

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Veröffentlicht in:	European journal of pediatrics 2005-03, Vol.164 (3), p.154-157
Hauptverfasser:	Oexle, Konrad, Thamm-Mücke, Barbara, Mayer, Thomas, Tinschert, Sigrid
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Chromosomal Proteins, Non-Histone - genetics Codon, Terminator DNA Mutational Analysis DNA-Binding Proteins - genetics Exons Female Frameshift Mutation Head - abnormalities Humans Intellectual Disability - genetics Methyl-CpG-Binding Protein 2 Repressor Proteins - genetics Rett Syndrome - genetics
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