Table 1 Mutations and clinical features of 30 unrelated Fabry disease hemizygotes or heterozygotes
From: Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease
Patient | Location | Allele codon or cDNA nucleotidea | Genomic nucleotide changeb | Plasma α-Gal A activity (U/ml) | Clinical phenotypec |
|---|---|---|---|---|---|
Novel mutations | |||||
Missense | |||||
1 | Ex 3 | C142R | g7323T→C | 1.6 | Classic |
2 | Ex 4 | G183D | g8321G→A | 1.0 | Classic |
3 | Ex 5 | S235C | g10195C→G | 1.3 | Classic |
4 | Ex 5 | W236L | g10198G→T | 0.8 | Classic |
5 | Ex 5 | D244H | g10221G→C | — | Het/classic |
6 | Ex 5 | P259L | g10267C→T | 0.3 | Cardiac |
7 | Ex 5 | M267I | g10292G→A | 0.2 | Classic |
8 | Ex 6 | I289F | g10573A→T | 1.9 | Classic |
9 | Ex 6 | Q321E | g10669C→G | 0.3 | Classic |
10 | Ex 7 | C378Y | g11111G→A | — | Het/classic |
Nonsense | |||||
11 | Ex 1 | C52X | g1335C→A | 13.3 | Het/classic |
12 | Ex 1 | W277X | g10538G→A | 0.9 | Classic |
Splice Site | |||||
13 | Int 4 | IVS4+4 | g8416A→T | 1.0 | Classic |
14 | Int 6 | IVS6+2 | g10709T→C | 0.6 | Classic |
15 | Int 6 | IVS6−1 | g10977T→C | — | Classic |
Rearrangements | |||||
16 | Ex 1 | 35del13 | 1214delGCGCGCTTGCGCT | 0.5 | Classic |
17 | Ex 2 | 256del1 | 5151delT | 1.0 | Classic |
18 | Ex 6 | 892ins1 | 10600insT | 1.3 | Classic |
19 | Ex 7 | 1176del4 | 11154delGAAG | 0.4 | Classic |
20 | Ex 7 | 1188del1 | 11166delC | 0.2 | Classic |
Previously reported mutations | |||||
Missense | |||||
21 | Ex 1 | M42V | g1303A→C | 6.8 | Het/classic |
22 | Ex 2 | R112C | g5233C→T | 0.2 | Classic |
23 | Ex 3 | S148R | g7343T→G | 0.4 | Classic |
24 | Ex 3 | D165V | g7393A→T | — | Classic |
25 | Ex 5 | N215S | g10135A→G | 0.5 | Cardiac |
26 | Ex 5 | N215S | g10135A→G | 6.2 | Het/cardiac |
Nonsense | |||||
27 | Ex 2 | Q99X | g5194C→T | 0.5 | Classic |
28 | Ex 3 | C142X | g7325C→A | 0.2 | Classic |
29 | Ex 5 | R227X | g10170C→T | 0.1 | Classic |
Rearrangements | |||||
30 | Ex 7 | 1072del3 | 11050delGAG | 0.2 | Classic |