Table 2.

TP63 Mutations in EEC Syndrome, LMS, AEC Syndrome, ADULT Syndrome, and Isolated SHFM

Amino Acid Change	No. ofFamilies(n=78)	CpG Isleta	Disorder(s)	Reference(s)
Exon 3′:
N6H	1	−	ADULT syndrome	Amiel et al. 2001
Exon 4:
G76W	1	−	LMS	Authors' unpublished data
Exon 5:
IVS4-2A→Cb	1	−	SHFM	van Bokhoven et al. 2001
Y163C	1	−	EEC syndrome	Authors' unpublished data
Y192C	2	−	EE syndrome	Authors' unpublished data
K193E	1	−	SHFM	van Bokhoven et al. 2001
K194E	1	−	SHFM	Ianakiev et al. 2000
V202M	1	−	EE syndrome	Authors' unpublished data
Exon 6:
R204W	6	+	EEC syndrome	Celli et al. 1999, van Bokhoven et al. 2001
R204Q	4	+	EEC syndrome	van Bokhoven et al. 2001, authors' unpublished data
R227Q	4	+	EEC syndrome	Authors' unpublished data
Exon 7:
C269Y	1	−	EEC syndrome	van Bokhoven et al. 2001
S272N	1	−	EEC syndrome	Celli et al. 1999
C273Y	1	−	EEC syndrome	Authors' unpublished data
R279H	8	+	EEC syndrome	Celli et al. 1999, Ianakiev et al. 2000, van Bokhoven et al. 2001, authors' unpublished data
R279C	3	+	EEC syndrome	Kosaki et al. 2001, van Bokhoven et al. 2001
R279Q	1	−	EEC syndrome	van Bokhoven et al. 2001
R280C	5	+	EEC syndrome, SHFM	Ianakiev et al. 2000, van Bokhoven et al. 2001, authors' unpublished data
R280S	1	+	EEC syndrome	van Bokhoven et al. 2001
R280H	2	+	EEC syndrome, SHFM	van Bokhoven et al. 2001
R298Q	2	+	ADULT syndrome	Duijf et al. 2002, authors' unpublished data
Exon 8:
R304W	4	+	EEC syndrome	Celli et al. 1999, Wessagowit et al. 2000, van Bokhoven et al. 2001, authors' unpublished data
R304Q	6	+	EEC syndrome	Ianakiev et al. 2000, van Bokhoven et al. 2001
C306R	1	−	EEC syndrome	Celli et al. 1999
C308S	1	−	EEC syndrome	van Bokhoven et al. 2001
P309S	1	−	EEC syndrome	van Bokhoven et al. 2001
D312H	1	−	EEC syndrome	van Bokhoven et al. 2001
Exon 11:
IVS10-2A→Gb	1	−	AEC syndrome	Barrow et al., in press
Exon 13:
L518V	1	−	AEC syndrome	McGrath et al. 2001
L518F	1	−	AEC syndrome	McGrath et al. 2001
C526G	1	−	AEC syndrome	McGrath et al. 2001
C526W	1	−	AEC syndrome	McGrath et al. 2001
1689InsA	1	−	EEC syndrome	Celli et al. 1999
1693-1694DelTT	1	−	LMS	van Bokhoven et al. 2001
G534V	1	−	AEC syndrome	McGrath et al. 2001
T537P	1	−	AEC syndrome	McGrath et al. 2001
Q540L	1	−	AEC syndrome	McGrath et al. 2001
I541T	2	−	AEC syndrome	McGrath et al. 2001, authors' unpublished data
Exon 14:
1859DelC	1	−	AEC syndrome	Authors' unpublished data
1860-1861DelAA	1	−	LMS	van Bokhoven et al. 2001
Q634X	1	−	SHFM	van Bokhoven et al. 2001
E639X	1	−	SHFM	Authors' unpublished data

^a+ = Mutation at a CpG site (n=45); − = mutation not at a CpG site (n=33).

^bIntron mutation detected on analysis of the indicated exons.