Molecular Vision: Plomp, Mol Vis 2008; 14:118-124. Table 1

Table 1. Summary of the demographic and clinical data of the patients with novel mutations

Case	Allele 1	Allele 2	Sex	Age (years)	Origin	Age of onset	Skin	Biopsy	Eyes	CV	Fam
1	c.3662G>A	c.1685T>C	F	28	E	16	+ (Figure 2)	+	as	n	neg
2	c.2787+1G>T	c.2477T>C	M	13	GB	10	+	+	n	n	neg
3	c.2891G>C	-	F	31	GB	29	+	nd	as	n	?
4	c.3207C>A	c.3871G>A	M	36	NL	?	+	+	?	?	?
5	del exon 23–29	c.3364delT	F	29	NL	29	+	+	pdo, as (Figure 3)	?	pos
6	c.3717T>G	c.3717T>G	F	25	TR	19	+	+	pdo, as, co	mi	pos
7	c.4015C>T	c.4306_4312del	F	43	S	?	+	?	as	n	neg

The diagnosis of pseudoxanthoma elasticum (PXE) can be made if a case has at least two of the following criteria: characteristic skin lesions, characteristic abnormalities in a skin biopsy, characteristic retinal lesions. Based on these criteria, all of our cases have a definite diagnosis of PXE. No genotype-phenotype correlations can be made in this small group. +=affected, as=angioid streaks, co=comet-like lesions, cv=cardiovascular, E=Spain, F=female, fam=family history, GB=Great Britain, M=male, mi=mitral valve insufficiency, n=normal, nd=not done, neg=negative, NL=Netherlands, pdo=peau d’orange, pos=positive, S=Sweden, TR=Turkey, yrs=years, ?=no information, novel mutations are bold and underlined.