Table 2.
CHARGE-Causing Mutations Identified
| Accession no. | Type | DNA mutationa | Protein mutation | Parental testing | Previously reported |
|---|---|---|---|---|---|
| 052044 | f | c.191_194delCAAA | p.T64fsX65 | ||
| 063616 | x | c.253C>T | p.Q85X | ||
| 073716 | f | c.285delG | p.G95fsX210 | ||
| 801921 | x | c.334C>T | p.Q112X | 4 | |
| 808037 | x | c.435G>A | p.W145X | 4 | |
| 060362 | x | c.469C>T | p.R157X | 1, 3, inherited in 7 | |
| 900517 | x | c.469C>T | p.R157X | 1, 3, inherited in 7 | |
| 051962 | x | c.502C>T | p.Q168X | ||
| 076598 | x | c.511C>T | p.Q171X | ||
| 062461 | x | c.562C>T | p.Q188X | ||
| 807028 | x | c.601C>T | p.Q201X | ||
| 054032 | f | c.729delC | p.P243fsX304 | De novo | |
| 060395 | f | c.780delC | p.P260fsX304 | ||
| 808774 | f | c.780delC | p.P260fsX304 | ||
| 076601 | f | c.865delA | p.T289fsX304 | ||
| 062556 | x | c.889C>T | p.Q297X | ||
| 051582 | f | c.900dupC | p.S301fsX317 | ||
| 071214 | x | c.934C>T | p.R312X | De novo | 9 |
| 074583 | x | c.934C>T | p.R312X | 9 | |
| 804090 | x | c.934C>T | p.R312X | 9 | |
| 806016 | x | c.934C>T | p.R312X | 9 | |
| 808274 | x | c.934C>T | p.R312X | 9 | |
| 801830 | x | c.939T>G | p.Y313X | ||
| 053758 | x | c.1024C>T | p.Q342X | ||
| 805081 | f | c.1079_1095del17 | p.G360fsX368 | ||
| 060959 | f | c.1095_1096insTC | p.P366fsX377 | De novo in 4 | |
| 903850 | f | c.1140_1143dupTATG | p.H382fsX405 | ||
| 801859 | x | c.1153C>T | p.Q385X | ||
| 074683 | f | c.1310dupA | p.H437fsX574 | One parent excluded | |
| 060219 | x | c.1312C>T | p.Q438X | ||
| 802161 | f | c.1319delC | p.P440fsX462 | ||
| 077524 | x | c.1366C>T | p.Q456X | ||
| 902216 | x | c.1366C>T | p.Q456X | ||
| 052350 | f | c.1374_1375delTC | p.S458fsX573 | ||
| 051457 | x | c.1480C>T | p.R494X | De novo in 4 and 11 | |
| 061371 | x | c.1480C>T | p.R494X | De novo in 4 and 11 | |
| 074832 | x | c.1480C>T | p.R494X | De novo in 4 and 11 | |
| 803442 | x | c.1480C>T | p.R494X | De novo in 4 and 11 | |
| 902758 | x | c.1480C>T | p.R494X | De novo in 4 and 11 | |
| 812180 | f | c.1488dupA | p.P497fsX574 | ||
| 808384 | x | c.1510C>T | p.Q504X | ||
| 802325 | f | c.1544delC | p.P515fsX563 | ||
| 811230 | x | c.1576C>T | p.Q526X | ||
| 802993 | f | c.1610_1611insA | p.W537fsX537 | ||
| 061801 | f | c.1689dupA | p.E564fsX574 | ||
| 811915 | f | c.1730dupA | p.N577fsX584 | ||
| 076142 | f | c.1818_1819insAT | p.V607fsX608 | ||
| 075651 | f | c.1925delA | p.K642fsX710 | ||
| 065234 | f | c.2034delA | p.K678fsX710 | ||
| 807136 | s | c.2096+2T>C | IVS3+2T>C | One parent excluded | |
| 053440 | f | c.2180delT | p.L727fsX727 | ||
| 070341 | f | c.2244_2245delAC | p.R748fsX760 | ||
| 061959 | x | c.2311G>T | p.E771X | ||
| 051768 | x | c.2440C>T | p.Q814X | De novo | |
| 062375 | s | c.2443-1delG | IVS6-1delG | ||
| 060118 | s | c.2498+2dupT | IVS7+2dupT | De novo | |
| 062315 | f | c.2504_2508delATCTT | p.Y835fsX848 | 3 | |
| 800824 | f | c.2504_2508delATCTT | p.Y835fsX848 | 3 | |
| 076679 | f | c.2509_2512delCATT | p.H837fsX842 | ||
| 802426 | f | c.2509_2512delCATT | p.H837fsX842 | ||
| 061328 | x | c.2572C>T | p.R858X | De novo in 3 | |
| 074555 | x | c.2572C>T | p.R858X | De novo in 3 | |
| 801724 | x | c.2572C>T | p.R858X | De novo in 3 | |
| 806103 | x | c.2572C>T | p.R858X | De novo in 3 | |
| 070890 | m/s | c.2613G>T | p.E871Db | De novo | |
| 062987 | s | c.2697+2T>G | IVS9+2T>G | One parent excluded | |
| 071276 | f | c.2737_2738insTC | p.Y913fsX925 | ||
| 800699 | x | c.2753G>A | p.W918X | De novo | |
| 070907 | x | c.2839C>T | p.R947X | 2, de novo in 11 | |
| 801407 | x | c.2858G>A | p.W953X | ||
| 065597 | f | c.2905_2906delAG | p.R969fsX993 | ||
| 052425 | s | c.2957+2T>G | IVS11+2T>G | ||
| 060339 | x | c.2959C>T | p.R987X | 3, de novo in 5 | |
| 070946 | x | c.2959C>T | p.R987X | 3, de novo in 5 | |
| 800117 | x | c.2959C>T | p.R987X | 3, de novo in 5 | |
| 806836 | x | c.2959C>T | p.R987X | 3, de novo in 5 | |
| 810347 | x | c.2959C>T | p.R987X | 3, de novo in 5 | |
| 073135 | m | c.3005C>T | p.Q1002Rb | De novo | |
| 064779 | m | c.3082A>G | p.I1028Vb | De novo in 1, 3, and 8 | |
| 077115 | m | c.3082A>G | p.I1028Vb | De novo | De novo in 1, 3, and 8 |
| 064695 | x | c.3106C>T | p.R1036X | 2, 3 | |
| 071885 | x | c.3106C>T | p.R1036X | 2, 3 | |
| 075224 | x | c.3106C>T | p.R1036X | 2, 3 | |
| 804863 | x | c.3106C>T | p.R1036X | 2, 3 | |
| 903061 | x | c.3106C>T | p.R1036X | 2, 3 | |
| 811229 | f | c.3122dupT | p.L1041fsX1052 | ||
| 061125 | x | c.3205C>T | p.R1069X | 12, de novo in 4 and 8 | |
| 076312 | f | c.3572_3573delAA | p.K1191fsX1206 | ||
| 054292 | f | c.3617_3619delTTGinsAATA | p.I1206fsX1207 | ||
| 902200 | x | c.3646A>T | p.K1216X | ||
| 903124 | x | c.3646A>T | p.K1216X | ||
| 800035 | x | c.3655C>T | p.R1219X | 3, 9 | |
| 805981 | f | c.3693delA | p.K1231fsX1242 | ||
| 054177 | f | c.3728dupA | p.N1243fsX1262 | ||
| 064752 | x | c.3768C>G | p.Y1256X | De novo | |
| 065763 | s | c.3779-2A>G | IVS15-2A>G | 3 | |
| 071881 | x | c.3802G>T | p.E1268X | ||
| 053821 | f | c.3806_3811delTTAAAGinsA | p.F1269fsX1269 | ||
| 053162 | m | c.3881T>C | p.L1294Pb | De novo in 4 | |
| 807908 | s | c.3989+1G>A | IVS16+1G>A | ||
| 061708 | s | c.3990-2A>G | IVS16-2A>G | ||
| 063439 | f | c.4012_4013delGG | p.G1338fsX1355 | ||
| 077569 | x | c.4015C>T | p.R1339X | 2, 3, 11, de novo in 4 | |
| 808924 | x | c.4015C>T | p.R1339X | 2, 3, 11, de novo in 4 | |
| 052094 | f | c.4138dupA | p.T1380fsX1385 | 8 | |
| 078276 | x | c.4164G>A | p.W1388X | De novo | |
| 052779 | f | c.4183delC | p.Q1395fsX1403 | ||
| 061322 | m/s | c.4185G>C | p.Q1395Hb | De novo | De novo in 8 |
| 073529 | s | c.4186-1G>A | IVS17-1G>A | ||
| 051749 | f | c.4203_4204delTA | p.H1401fsX1420 | ||
| 053271 | x | c.4318C>T | p.Q1440X | ||
| 063442 | x | c.4393C>T | p.R1465X | De novo | 4 |
| 074759 | x | c.4393C>T | p.R1465X | 4 | |
| 806837 | x | c.4393C>T | p.R1465X | 4 | |
| 060639 | x | c.4441A>T | p.K1481X | ||
| 074907 | x | c.4480C>T | p.R1494X | 2, 13 | |
| 802505 | s | c.4533+1G>A | IVS19+1G>A | ||
| 801879 | x | c.4593G>A | p.W1531X | ||
| 062503 | x | c.4601G>A | p.W1534X | 12, de novo in 4 | |
| 052966 | f | c.4634delT | p.L1545fsX1545 | ||
| 903559 | x | c.4753G>T | p.E1585X | ||
| 062946 | x | c.4795C>T | p.Q1599X | Inherited in 8 | |
| 061334 | x | c.4853G>A | p.W1618X | ||
| 077838 | x | c.5029C>T | p.R1677X | De novo | |
| 061465 | x | c.5029C>T | p.R1677X | ||
| 065687 | s | c.5050+1G>A | IVS22+1G>A | ||
| 806781 | f | c.5054delT | p.L1685fsX1698 | ||
| 806158 | f | c.5086_5093delAAGAAGGT | p.K1696fsX1733 | ||
| 053905 | f | c.5094dupG | p.K1699fsX1736 | ||
| 807855 | x | c.5101C>T | p.Q1701X | ||
| 064486 | x | c.5122C>T | p.Q1708X | ||
| 063670 | f | c.5138_5141delTGGC | p.L1713fsX1730 | ||
| 053226 | f | c.5138_5141delTGGC c.5147_5148insGCCAGCTG | p.L1713fsX1737 | De novo | |
| 807173 | f | c.5178_5179dupCT | p.Y1727fsX1732 | ||
| 076269 | m | c.5216T>G | p.L1739Rb | De novo | |
| 053286 | x | c.5245A>T | p.R1749X | ||
| 063510 | f | c.5250delA | p.Q1750fsX1752 | ||
| 054190 | x | c.5428C>T | p.R1810X | De novo in 4 and 11 | |
| 902215 | x | c.5428C>T | p.R1810X | De novo in 4 and 11 | |
| 060225 | s | c.5534+1G>A | IVS26+1G>A | De novo in 3 and 4 | |
| 902057 | f | c.5574delA | p.K1858fsX1868 | ||
| 064246 | f | c.5588delC | p.P1863fsX1868 | ||
| 807509 | s | c.5666-2A>C | IVS28-2A>C | ||
| 070476 | f | c.5776delA | p.R1926fsX1929 | ||
| 807429 | x | c.5782C>T | p.Q1928X | ||
| 052662 | x | c.5791C>T | p.Q1931X | De novo | |
| 052314 | x | c.5833C>T | p.R1945X | One parent excluded | 4, de novo in 3 |
| 054428 | x | c.5833C>T | p.R1945X | 4, de novo in 3 | |
| 800825 | f | c.5960_5963delCTGT | p.P1987fsX2041 | ||
| 062684 | f | c.6018delA | p.K2006fsX2042 | ||
| 804799 | x | c.6070C>T | p.R2024X | 1, 3, de novo in 4 | |
| 802868 | x | c.6070C>T | p.R2024X | 1, 3, de novo in 4 | |
| 064618 | x | c.6079C>T | p.R2027X | De novo in 3 | |
| 060386 | s | c.6103+8T>C | IVS30+8T>C | De novo in 4 | |
| 808893 | x | c.6157C>T | p.R2053X | 3, 5, de novo in 4 | |
| 806949 | x | c.6272G>A | p.W2091X | ||
| 062558 | x | c.6292C>T | p.R2098X | 10 | |
| 800374 | x | c.6292C>T | p.R2098X | 10 | |
| 062120 | f | c.6320_6321delAC | p.H2107fsX2118 | ||
| 053898 | m | c.6347T>A | p.I2116Nb | One parent excluded | |
| 801826 | m | c.6347T>A | p.I2116Nb | De novo | |
| 075271 | x | c.6397C>T | p.Q2133X | ||
| 064459 | f | c.6461delC | p.P2154fsX2214 | ||
| 902770 | f | c.6502delC | p.L2168fsX2214 | ||
| 061870 | f | c.6587_6589delCCGinsTA | p.T2196fsX2214 | ||
| 053153 | f | c.6746delA | p.D2249fsX2276 | De novo | |
| 803104 | x | c.6757G>T | p.E2253X | ||
| 042727 | s | c.6775+1G>A | IVS31+1G>A | ||
| 062825 | x | c.6850C>T | p.R2284X | De novo in 6 and 8 | |
| 077988 | x | c.6850C>T | p.R2284X | De novo in 6 and 8 | |
| 805191 | x | c.6850C>T | p.R2284X | De novo in 6 and 8 | |
| 074324 | f | c.7027delC | p.Q2343fsX2442 | ||
| 05865 | x | c.7132G>T | p.E2378X | De novo | |
| 052445 | x | c.7195C>T | p.Q2399X | ||
| 061695 | f | c.7249delA | p.R2417fsX2442 | ||
| 061278 | x | c.7252C>T | p.R2418X | De novo | 3 |
| 902420 | x | c.7252C>T | p.R2418X | 3 | |
| 076853 | x | c.7282C>T | p.R2428X | 3 | |
| 809472 | x | c.7282C>T | p.R2428X | 3 | |
| 063341 | f | c.7328delA | p.D2443fsX2502 | ||
| 075614 | x | c.7367C>G | p.S2456X | 13 | |
| 060501 | f | c.7418_7427del10 | p.P2473fsX2499 | ||
| 062920 | x | c.7447G>T | p.E2483X | ||
| 062147 | x | c.7636G>T | p.E2546X | Father mosaic | 13 |
| 051996 | f | c.7782delG | p.W2594fsX2595 | De novo | |
| 076047 | f | c.7875_7876delGA | p.Q2625fsX2628 | ||
| 062087 | x | c.7879C>T | p.R2627X | 3 | |
| 064661 | x | c.7879C>T | p.R2627X | One parent excluded | 3 |
| 054199 | x | c.7891C>T | p.R2631X | ||
| 060051 | x | c.7891C>T | p.R2631X | ||
| 070279 | x | c.7891C>T | p.R2631X | ||
| 800072 | x | c.7891C>T | p.R2631X | ||
| 811668 | x | c.7891C>T | p.R2631X | ||
| 065478 | f | c.7919_7926delCTTTGACA | p.T2640fsX2649 | ||
| 806062 | f | c.7921_7922delTT | p.L2641fsX2651 | ||
| 065062 | x | c.8054G>A | p.W2685X | De novo | |
| 061050 | f | c.8078delG | p.G2693fsX2708 | De novo | |
| 077711 | f | c.8452_8459dupAACCCTCT | p.L2820fsX2891 | ||
| 062355 | f | c.8565delA | p.K2855fsX2888 | ||
| 05885 | f | c.8962dupG | p.D2988fsX2989 | De novo | De novo in 8 |
| 077415 | del | delEX2_38 | Whole gene deletion | 1, 11 | |
| 063780 | del | delEX2 | Exon 2 dele | ||
| 807132 | dup | dupEX3 | Exon 3 dup |
a
Mutated bases in the human CHD7 cDNA were numbered based on accession number NM_017780. Gene and protein nomenclature follows recommendations (den Dunnen and Antonarakis, 2001). Bold font indicates recurrent mutations.
b
Conserved in zebrafish
CHD7 protein.
1Vissers et al. (2004).
2Aramaki et al. (2006).
3Jongmans et al. (2006).
4Lalani et al. (2006).
5Sanlaville et al. (2006).
6Felix et al. (2006).
7Delahaye et al. (2007).
8Vuorela et al. (2007).
9Writzl et al. (2007).
10Gennery et al. (2008).
11Wincent et al. (2008).
12Lee et al. (2009).
x = premature stop codon; f = frameshift mutation; s = splice site mutation; m = missense mutation; del = deletion; dup = duplication; ins = insertion.