Table 2

Overview of mutations reported in Camurati-Engelmann disease families thus far

Mutations (DNA):	Exon 1		Exon 2	Exon 4
Mutations (DNA):	28_36dup	241T→C	463C→T	652C→T	653G→A	664C→G	?	667T→C	667T→G	673T→C
Mutations (protein):	L10-L12dup	Y81H	R156C	R218C	R218H	H222D	C223S	C223R	C223G	C225R
Number of families reported	2	2	4	17	10	1	1	1	1	6
Percentage	4.4	4.4	8.9	37.8	22.2	2.2	2.2	2.2	2.2	13.3
Percentage per exon		8.9	8.9							82.2