Table 1 Reported mutations in ARSE gene
Exon | Mutation | Number of patients | Inherited |
|---|---|---|---|
00_02i | Exons 1–2 deletion | 1 | + |
00_11 | Whole gene deletion | 7 | + |
3 | c.36G > C | 1 | + |
3 | c.119 T > G | 2 | + |
3 | c.126_128delTCT | 1 | NA |
3 | c.169G > A | 1 | NA |
02i_03i | Exon 3 deletion | 1 | + |
4 | c.217G > A | 1 | + |
4 | c.239 T > A | 1 | + |
4 | c.268A > G | 1 | NA |
5 | c.314dupT | 1 | NA |
5 | c.332G > C | 1 | + |
5 | c.349G > A | 1 | NA |
5 | c.345G > A | 1 | NA |
5 | c.410G > C | 3 | + |
5 | c.410G > T | 1 | NA |
6 | c.445G > T | 1 | NA |
6 | c.733G > C | 1 | NA |
6 | c.767dupT | 1 | + |
06i_10i | Exons 7–10 deletion | 2 | + |
7 | c.916A > G | 1 | NA |
7 | c.949G > A | 2 | + |
8 | c.1063G > A | 1 | NA |
9 | c.1130G > A | 2 | + |
9 | c.1171G > A | 1 | + |
9 | c.1226C > T | 1 | + |
09i_10i | Exon 10 deletion | 1 | NA |
10 | c.1300G > A | 2 | + |
10 | c.1387G > A | 1 | NA |
11 | c.1442C > T | 4 | + |
11 | c.1475G > A | 1 | NA |
11 | c.1618C > T | 1 | NA |
11 | c.1732C > T | 2 | + |
11 | c.1743G > A | 6 | + |