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

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

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

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.

ISSN: 1471-2202