Table 1 of
Sultana, Mol Vis 2007;
13:1327-1332.Table 1 of
Sultana, Mol Vis 2007;
13:1327-1332.
Table 1. Details of families with autosomal recessive congenital hereditary endothelial dystrophy and mutations in SLC4A11
Families with CHED2 in whom mutations were identified are shown with a number of affected and unaffected members available for study. Unaffected members such as the father (F), the mother (M), siblings (S), uncle (U), and grandparent (G) that were tested are shown in parentheses. Parental consanguinity is shown as present (Y) or absent (N). RFLPs show restriction enzyme sites created (+) or destroyed (-). In the Novel/Reported column, "N" indicates that the novel mutations and their numbers represent references of reported mutations. Mutation nomenclature is as per recommendations.
Sample Family Parental Novel/ Mutation
number number Affected Unaffected consanguinity Mutation in cDNA Mutation in protein Exon RFLP reported type
------ ------ -------- ------------ ------------- --------------------- ------------------- ----- --------- -------- --------
1 CH-34 1 0 Y c.140delA Tyr47SerfsX69 2 N Deletion
2 CH-42 1 2 (F,M) N c.[306delC]+[?] Gly103ValfsX13 3 MspI (-) N Deletion
3 CH-2 2 2 (F,U) Y c.473_480del8 bp Arg158GlnfsX4 4 ItaI (-) [10] Deletion
4 CH-5 1 1 (M) Y c.473_480del8 bp Arg158GlnfsX4 4 ItaI (-) [10] Deletion
5 CH-19 2 2 (F,M) Y c.618_619delAG Val208AlafsX38 5 N Deletion
6 CH-45 1 4 (F,M,S) Y c.618_619delAG Val208AlafsX38 5 N Deletion
7 CH-31 1 1 (F) Y c.878_889del12 Glu293_Glu296del 7 EcoRI (-) N Deletion
8 CH-50 1 2 (F,M) N c.2389_2391delGAT Asp797del 17 TaqI (-) N Deletion
9 CH-12 1 3 (F,M,S) Y c.1317_1322del6ins8 Leu440ValfsX6 10 HaeII (-) N Complex
10 CH-52 1 3 (F,M,S) Y c.334C>T Arg112X 3 N Nonsense
11 CH-40 1 4 (F,M, G,U) N c.[334C>T]+[2318C>T] Arg112X+Pro773Leu 3+17 HapII(-) Nonsense
12 CH-21 1 1 (F) N c.[334C>T]+[1751C>A] Arg112X+Thr584Lys 13+3 AluI(+) N Nonsense
13 CH-63 1 0 Y c.1813C>T Arg605X 14 [8] Nonsense
14 CH-65 1 0 Y c.1813C>T Arg605X 14 [8] Nonsense
15 CH-28 1 0 N c.[1813C>T]+[?] Arg605X 14 [8] Nonsense
16 CH-48 1 1 (G) Y c.1894G>T Glu632X 14 N Nonsense
17 CH-38 1 1 (F) Y c.2407C>T Gln803X 17 MaeI (+) N Nonsense
18 CH-30 1 2 (F,M) N c.[2264G>A]+[2623C>T] Arg755Gln+Arg875X 17+19 [8] Nonsense
19 CH-3 2 6 (F,M,S,U) Y c.625C>T Arg209Trp 5 N Missense
20 CH-20 1 4 (F,M,S) Y c.625C>T Arg209Trp 5 N Missense
21 CH-1 1 2 (F,M) Y c.638C>T Ser213Leu 5 N Missense
22 CH-27 1 1 (U) N c.697C>T Arg233Cys 6 BbvI (+) N Missense
23 CH-61 1 1 (M) N c.1253G>A Gly418Asp 10 BveI (+) N Missense
24 CH-17 1 1 (F) N c.[1202C>A]+[1418T>G] Thr401Lys+Leu473Arg 9+11 AccII (+) N Missense
25 CH-49 1 2 (F,M) Y c.1466C>T Ser489Leu 12 [8] Missense
26 CH-16 2 1 (M) Y c.1751C>A Thr584Lys 13 AluI (+) N Missense
27 CH-11 1 3 (F,M,S) N c.2263C>T Arg755Trp 17 [18] Missense
28 CH-57 2 1 (F) Y c.2318C>T Pro773Leu 17 HapII (-) N Missense
29 CH-8 1 1 (F) N c.2470G>A Val824Met 18 BshNI (-) [10] Missense
30 CH-33 1 1 (M) N c.2470G>A Val824Met 18 BshNI (-) [10] Missense
31 CH-58 2 1 (F) Y c.2605C>T Arg869Cys 18 [8] Missense
32 CH-32 1 1 (M) Y c.2605C>T Arg869Cys 18 [8] Missense
33 CH-36 1 2 (F,M) Y c.996+26C_+44Cdel19 Not known IVS-7 N Deletion
34 CH-47 1 1 (F) Y c.996+26C_+44Cdel19 Not known IVS-7 N Deletion
35 CH-53 1 1 (M) Y c.1091-1G>C Not known IVS-8 MaeI (-) N Splice
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