Table 3. Synopsis (summary of all results shown in Figures 1, 2, 3 and 4 and Tables 1, 2).

	Mutation		Endogenous FGE in MSD fibroblasts		Sulfatase activities	Recombinant FGE in HT 1080 cellsa
Clinical Phenotypeb	cDNA	Protein	Expression	Localizationc	in MSD fibroblastse	Activity (% wildtype)	Stabilityd	Localizationc
NVS	c.979C>T	p.R327X	+	ER	↓↓↓	0/0.3	↓↓↓/↓↓	ER
	c.IVS3+5-8del	p.A149_A173del
LIS	c.463C>T	p.S155P	+	ER	↓↓	2	↓	ER
	c.463C>T	p.S155P
LIS	c.739G>C	p.G247R	+	ER	↓↓	7	↓↓	ER
	c.739G>C	p.G247R
LIS	c.1033C>T	p.R345C	+	ER	↓↓	2	↓	ER
	c.1033C>T	p.R345C
LIM	c.788G>T	p.G263V	+	ER	↓	16	↓↓	ER
	c.788G>T	p.G263V

^aFor the NVS case the results for recombinant FGE are given referring to the two different missense mutations detected in this heterozygous patient (p.R327X/p.A149_A173del).

^bNVS, neonatal very severe; LIS, late infantile severe; LIM, late infantile mild.

^cER, endoplasmatic reticulum.

^dIntracellular stability reduced 2-3 fold (↓), about 5 fold (↓↓) or about 8 fold (↓↓↓) within 1.5 h.

^eAll measured sulfatase activities ≤61% (↓), ≤32% (↓↓) or ≤1.4% (↓↓↓) relative to wild type.