Table 1.

Neurodevelopmental disorders associated with MeCP2 mutations

Studies	Disorder	Mutation	Gender	Parent of origin
Amir et al. [5]	Rett syndrome	Severe loss of function	Female	Paternal
Schanen et al. [8], Villard et al. [9]	Severe neonatal encephalopathy	Severe loss of function	Male	Maternal
Carney et al. [21]	Autism	Severe loss of Function	Female	Paternal (?)
Couvert et al. [18]	X-linked mental retardation	Mild loss of function	Male	Maternal
Lugtenberg et al. [19•]	X-linked mental retardation	Duplication	Male	Maternal
Loat et al. [22], Nagarajan et al. [23], Shibayama et al. [24], Ramocki et al. [25••]	Autism	Duplication/noncoding variants	Male	Maternal
Adegbola et al. [27], Cohen et al. [28], Watson et al. [29]	Other	Severe/mild	Male/female	Either (?)

MeCP2 methyl CpG binding protein-2