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Table 3 Characteristics of the RTT patient and control brain samples used in this study.

From: Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain

Sample Source UId Sex Age Mutation
      nt change aa change domain affected type of mutation
RTT1 HBTRC 4315 F 11 c.763C>T R255X TRD-NLS Nonsense
RTT3 HBTRC 4422 F 12 c.808C>T R270X TRD-NLS Nonsense
RTT4 TICHR NB F 18 c.473C>T T158M MBD Missense
RTT5 TICHR KB F 11 c.316C>T R106W MBD Missense
RTT6 TICHR BC F 21 c.808C>T R270X TRD-NLS Nonsense
RTT9 BCM 93-244 F 4 c.750insC P251fs TRD Frameshift/Truncation
CON4 NSWTRC 88210 F 43     
CON5 NSWTRC 88295 F 42     
CON6 NSWTRC 88365 F 31     
CON7 NSWTRC 88304 F 43     
CON8 NSWTRC 9092 F 46     
CON10 NSWTRC 12862 F 52     
  1. Abbreviations: HBTRC = The Harvard Brain Tissue Resource Center, Boston, USA; NSWTRC = The New South Wales Tissue Resource Centre, Sydney, Australia; BCM = Baylor College of Medicine, Houston, USA; TICHR = Telethon Institute for Child Health Research, Perth, Australia; UId = unique identifier from original source; MBD = methyl-binding domain; TRD = transcription repression domain; NLS = nuclear localization signal.