Table 1 of
Sultana, Mol Vis 2003;
9:730-734.Table 1 of
Sultana, Mol Vis 2003;
9:730-734.
Table 1. Mutations of the CHST6 gene among patients with macular corneal dystrophy
Shown are details of probands of the families studied and mutations identified. The asterisks ("*") designate mutations reported previously. FS indicates a frameshift. The last column indicates whether corneal grafts were performed and, if yes, whether they were bilateral or unilateral.
Consequence Restriction Age (yrs) Corneal
Family Mutation Mutation type in protein site change of onset Consanguinity graft
------ ------------ -------------------- ----------- ----------- --------- ------------- ----------
1 c.708-732del Deletion (25 bp) FS at R5 - 14 N N
2 c.744C>T Nonsense Q18X Xmi1 26 N Bilateral
3 c.786-792del Deletion (7 bp) FS at P31 - 26 Y N
4 c.847G>A Missense G52D Hinf1 13 Y N
5 c.847G>A Missense G52D Hinf1 40 Y Bilateral
6 c.850C>T* Missense S53L Eco241 23 Y Unilateral
7 c.850C>T* Missense S53L Eco241 20 N N
8 c.872delC Deletion (1 bp) FS at F60 Mse1 15 Y N
9 c.890delC* Deletion (1 bp) FS at V66 - 43 N N
10 [c.985C>G, Missense S98W+F107S - 14 N Bilateral
c.986C>G] +
c.1012T>C
11 c.1012T>C* Missense F107S - 10 Y Unilateral
12 c.1012T>C* Missense F107S - 15 Y N
13 c.1055C>G Missense F121L BseN1 23 Y N
14 c.1061G>A Nonsense W123X Cfr131 16 N Bilateral
15 c.1151C>A Nonsense C153X - 34 N Unilateral
16 c.1279insACG Insertion R195-196ins - 10 Y Bilateral
17 c.1296C>A Missense R202S Hph1 21 Y Bilateral
18 c.1303C>A* Missense P204Q Cfr421 49 Y N
19 c.1304-1306 Deletion + insertion FS at P204 Cfr421 25 N N
del3insAT*
20 [c.1321C>T + Missense S210F+D221E - 29 Y N
c.1355C>G]
21 c.1353G>T Missense D221Y Nmuc1 19 Y Bilateral
22 c.1348insCTG Insertion (in frame) W219-220ins - 17 N Unilateral
23 c.1348insCTG Insertion (in frame) W219-220ins - 15 Y Unilateral
24 c.1348insCTG Insertion (in frame) W219-220ins - 12 Y N
25 c.1348insCTG Insertion (in frame) W219-220ins - 14 Y N
26 c.1355C>G Missense D221E Nmuc1 13 Y Unilateral
27 c.1355C>G Missense D221E Nmuc1 childhood N Bilateral
28 c.1355C>G Missense D221E Nmuc1 35 Y Unilateral
29 c.1617G>T Nonsense G309X Tspr1 22 Y N
30 c.1731G>T Nonsense E347X - 34 N Unilateral
31 c.1731G>T Nonsense E347X - 15 Y Bilateral
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