Table 2. The mutations and some selected clinical findings of twenty-three carriers.

Familynumber	Exon/intron	Mutation type	Nucleotide changes	Amino acid change	Domaina	Sparse hair	Number of tooth missing	Conical shape tooth	Nail dysplasia	Sweat glands dysplasia	Methylation stateb (Cm value)
II1[12]	1	Missense	c.200A>T	E67V	E	–	1	0	–	–	Hyper
III1[12]	3	Missense	c.463C>T	R155C	F	+	5	0	+	NEc	Hyper
III2[12]	3	Missense	c.463C>T	R155C	F	–	NEc	NEc	–	–	Hyper
IV1[13]	3	Missense	c.467G>A	R156H	F	–	0	0	–	–	Hyper
V1[12]	3	Missense	c.491A>C	E164A	E	+	0	0	-	–	Normal
V2[12]	3	Missense	c.491A>C	E164A	E	+	0	0	+	–	Normal
VI1*	3	Deletion	–	–	E	+	7	0	+	NEc	Hyper
VI2*	3	Deletion	–	–	E	+	7	1	–	–	Hyper
VI3*	3	Deletion	–	–	E	–	0	0	–	–	Hyper
VI4*	3	Deletion	–	–	E	–	0	2	–	–	Hyper
VII1*	3	Deletion	–	–	E	–	0	0	–	–	Hyper
VII2*	3	Deletion	–	–	E	–	0	0	–	–	Hyper
VII3*	3	Deletion	–	–	E	–	0	4	–	–	Hyper
VII4*	3	Deletion	–	–	E	–	0	4	–	–	Hyper
VII5*	3	Deletion	–	–	E	–	0	2	–	–	Hyper
VII6*	3	Deletion	–	–	E	–	0	2	–	–	Hyper
I1	5	Frameshift	573insT	FS at 192 Term	C	–	0	0	–	–	Hyper
VIII1[12]	5	Splice donor site	IVS5+1 g>a	Altered splicing	C	–	0	0	–	–	Hypo
VIII2[12]	5	Splice donor site	IVS5+1 g>a	Altered splicing	C	–	0	0	–	–	Hypo
IX1[12]	7	Missense	c.758T>C	L253P	T	+	9	0	+	–	Hyper
X1[12]	9	Missense	c.926T>G	V309G	T	+	3	0	–	–	Hypo
XI1[13]	9	Missense	c.1045G>A	A349T	T	+	6	0	–	–	Hyper
XI2[13]	9	Missense	c.1045G>A	A349T	T	–	0	0	–	–	Hyper

^aE: Extracellular domain; F: Furin domain; C: Collagen domain; T: TNF homology domain.

^bHyper: hypermethylation; Hypo: hypomethylation.

^cnot examined.

^*unpublished data.