Table 1

Male MECP2 mutations, their predicted effect on MeCP2, and the observed phenotypes in males and females

Mutation	Type	Domain	Family	Comments	Male phenotype	Female phenotype	Ref
806delG	Truncating	TRD	+		Severe, neonatal, early death	RS	9
1154del32	Truncating	After TRD	+	inv(X)(q27;q28)	Severe, neonatal, early death	RS	8
T158M	Missense	MBD	+		Severe, neonatal, early death	RS	10
T158M	Missense	MBD	−	47,XXY / 46,XY	RS	RS	12
T158M	Missense	MBD	−	47,XXY	RS	RS	13
R270X	Truncating	TRD	−	Mosaic	RS	RS	15
816dup7	Truncating	TRD	−	Probably germline	RS	RS, probably	This report
166del2	Truncating	Before MBD	−	Mosaic	RS-like	RS, probably	11
R133H	Missense	MBD	−	Mosaic	RS-like	RS	14
Y141X	Truncating	MBD	−	47,XXY	RS-like	RS, probably	13
Q406X	Truncating	After TRD	+		MR, progressive spasticity	Normal (random XCI)	17
G428S	Missense	After TRD	+		Non-progressive encephalopathy	Normal (random XCI)	18
A140V	Missense	MBD	+		Non-specific MR	Mild retardation	16
E137G	Missense	MBD	+		Non-specific MR	Normal (random XCI)	19
R167W	Missense	After MBD	+		Non-specific MR	Normal (random XCI)	19
A140V	Missense	MBD	+		Non-specific MR	Normal (random XCI)	19
P399L	Missense	After TRD	?	Polymorphism ?	Non-specific MR	Not known	19
R453Q	Missense	After TRD	?	Polymorphism ?	Non-specific MR	Not known	19