Table 1.

MRP6 mutations in families with PXE

Family	Age and sex of proband	Mutation	Exon	Consequence	Verification*
1	53 F	3421C → T	24	R1141X	BsiYI
		3803G → A	27	R1268Q	BstXI
2	29 F	3412C → T	24	R1138W	MspI
3	40 F	3421C → T	24	R1141X	BsiYI
		Partial deletion	24†	Allelic loss	D16S2720
		MRP6			D16B9622
4	53 F	3736-1G → A	27	Altered splicing of exon 27	AciI
		Partial deletion	27†	Allelic loss	D16S2720
		MRP6			D16B9622
5	60 M	3413G → A	24	R1138Q	MspI
		3803G → A	27	R1268Q	BstXI
6	28 F	3421C → T	24	R1141X	BsiYI
7	41 M	3803G → A	27	R1268Q	BstXI
8	25 F	3421C → T	24	R1141X	BsiYI

^*Mutations were verified in the proband and his/her family members by digestion with restriction enzyme, or in case of deletion, by microsatellite markers indicated. 

^† Deletions extend beyond exons denoted.