Table 1

Mutations in the MECP2 gene reported in males with developmental delay

Study	Familial or sporadic	Mutation
Imessaoudene et al⁹	Familial non-fatal, non-progressive encephalopathy	G428S
Couvert et al¹¹	Family MRX16	E137G
	Family T36	R167W
	Sporadic	A140V
	Sporadic	P399L
	Sporadic	R453Q
	Sporadic	K284E
Orrico et al¹⁹	Familial severe XLMR	A140V
Klauck et al²⁰	PPM-X family	A140V
Meloni et al²²	Familial severe XLMR with spasticity	E406X
Hoffbuhr et al⁵	Sporadic	1154(del 132)
Yntema et al²³	Familial mild XLMR	In frame 1161-1400 (del 240)
Watson et al⁸	Motor delay, seizures	Mosaic 241del2