High Variability of Fabry Disease Manifestations in an Extended Italian Family

Table 1

GLA genetic diagram of family studied.

Patient number	Kinship	Gender/age	GLA mutation	Enzyme activity (nmol/h/spot)
2:2	Grand mother	F/84	—	—
2:3	Sister of 2:2	F/77	—	3.1
3:1	Mother	F/56	M51I	3.3
3:2	Father	M/53	—	3.5
3:3	Aunt	F/53	M51I	2.9
3:5	Cousin of 3:1	M/64	—	2.3
3:7	Cousin of 3:1	M/58	M51I	0.3
4:1	Proband	F/22	M51I	2.6
4:2	Brother	M/27	—	5.5
4:3	Cousin	M/28	M51I	0
4:4	Cousin	M/25	—	—
4:5	Cousin	F/21	M51I	2
4:6	Daughter of 3:5	F/24	—	5.4
4:7	Daughter of 3:7	F/22	M51I	2.4
4:8	Daughter of 3:7	F/25	M51I	0

—, no mutation; F, female; M, male. Normal values of α-Gal-A activity assayed in whole blood are >3 nmol/h/spot.