Table 2.

Genetic variants in GLA gene (reference sequence NM_000169.2) and phenotypes.

Patient	Genetic Variant		Nephropathy	HCMP	Stroke	Characteristic FD Symptoms
1	p.Arg363Pro	c.1088G>C	Yes	Yes	No	Yes
2	p.Asn272Ser	c.815A>G	No	Yes	No	Yes
3	p.Asn272Ser	c.815A>G	No	No	No	Yes
4	p.Asn272Ser	c.815A>G	Yes	Yes	No	Yes
5	p.Asn272Ser	c.815A>G	Yes	Yes	No	Yes
6	p.Asn272Ser	c.815A>G	No	Yes	No	Yes
7	p.Asn272Ser	c.815A>G	No	No	No	Yes
8	p.Asn272Ser	c.815A>G	No	No	No	No
9	p.Asn272Ser	c.815A>G	No	No	No	Yes
10	p.Glu358del	c.1072_1074delGAG	Yes	Yes	Yes	Yes
11	p.Glu87Asp	c.261_278del18	Yes	No	No	Yes
12	p.Arg342Gln	c.1025G>A	Yes	Yes	No	Yes
13	p.Ile270Met	c.810T>G	Yes	Yes	Yes	Yes
14	p.Ile270Met	c.810T>G	Yes	Yes	No	Yes
15	p.Arg227Ter	c.679C>T	No	No	No	Yes
16	p.Leu180Phe	c.540G>C	Yes	Yes	Yes	Yes
17	p.Leu180Phe	c.540G>C	No	No	No	No
18	p.Gly261ValfsTer8	c.789delG	Yes	Yes	Yes	Yes
19	p.Gly261ValfsTer8	c.789delG	No	No	No	Yes
20	p.Tyr152His	c.454T>C	Yes	Yes	No	No

Nephropathy was defined as albuminuria with urinary albumin-to-creatinine ratio (UACR) > 3 g/mol. Hypertrophic cardiomyopathy (HCMP) was assessed by echocardiography and/or cardiac MRI and defined according to the literature [37]. Stroke was confirmed by appropriate imaging assessment. Characteristic Fabry disease (FD) symptoms were defined when present Fabry neuropathic pain, angiokeratoma, and/or cornea verticillata.