Table 4 Reported mutations in SLC26A3, EPCAM, and MYO5B in East Asia
Gene | Exon/intron | Mutation type | cDNA variant | protein variant | Patients (n) | Region | Reference |
|---|---|---|---|---|---|---|---|
SLC26A3 | Exon 3 | Missense | c.239G > A | p.G80D | 1 | China | Zhang, et al. [3] |
| Â | Exon 3 | Insertion | c.268-269insAA/ c.269-270dupAA | p.G91Kfs*3 | 7 | China | |
|  | Exon 4 | Missense | c.358G > T | p.G120C | 2 | Japan | Konishi et al. [7] |
|  | Exon 4 | Missense | c.358G > A | p.G120S | 1 | Japan | Konishi et al. [7] |
| Â | Exon 4 | Deletion | c.354delC | p.F119Sfs*15 | 1 | Japan | Matsunoshita et al. [8] |
|  | Exon 4 | Missense | c.272G > T | p.G91V | 1 | Korea | Bhardwaj et al. [9] |
|  | Exon 4 | Missense | c.358G > A | p.G120S | 1 | China | Li et al. [10] |
|  | Exon 5 | Missense | c.392C > G | p.P131R | 1 | Japan | Konishi et al. [7] |
|  | Exon 5 | Missense | c.392C > T | p.P131A | 1 | Japan | |
|  | Exon 5 | Missense | c.401G > A | p.S134N | 1 | Korea | Hong et al.[12] |
|  | Exon 5 | Missense | c.392C > T | p.P131L | 2 | Korea | Hong et al. [12] |
|  | Exon 5 | Missense | c.525G > C | p.R175S | 1 | Korea | Lee et al.[13] |
|  | Exon 6 | Missense | c.634G > T | p.G212C | 1 | China | Li et al. [10] |
|  | Exon 7 | Missense | c.877G > A | p.E293K | 1 | Japan | Matsunoshita et al. [8] |
| Â | Exon 9 | Insertion | c.1007-1008insT | p.F336Ffs*34 | 5 | Japan | |
|  | Exon 9 | Missense | c.1043T > A | p.M348K | 1 | Japan | Konishi et al. [7] |
|  | Exon 9 | Missense | c.1039G > A | p.A347T | 1 | China | Wu et al. [14] |
|  | Exon 10 | Missense | c.1198T > C | p.S400P | 1 | Japan | Konishi et al. [7] |
|  | Exon 11 | Missense | c.1299G > A | p.A433A | ND | Japan | Lechner et al. [15] |
| Â | Exon 12 | Deletion | c.1342-1343del | p.L448Kfs*9 | 4 | Japan | |
|  | Exon 12 | Missense | c.1387C > T | p.R463X | 1 | China | Guo et al. [17] |
|  | Exon 13 | Missense | c.1487T > G | p.L496R | 3 | China | Makela et al. [16] |
|  | Exon 13 | Missense | c.1483C > A | p.Q495K | 1 | China | Guo et al. [17] |
|  | Exon 15 | Missense | c.1631T > A | p.I544N | 2 | China | |
|  | Exon 15 | Missense | c.1644C > G | p.N548K | 1 | Japan | Konishi et al. [7] |
|  | Exon 15 | Missense | c.1661G > A | p.R554Q | ND | Japan | Lechner et al. [15] |
|  | Exon 16 | Nonsense | c.1696C > T | p.R566* | 1 | China | This study |
|  | Exon 18 | Missense | c.2048T > A | p.I683N | 1 | China | Liu et al. [4] |
|  | Intron 6 | Splice-site change | c.735 + 4_735 + 7del | Intron donor site GT loss | 1 | China | Lin et al. [5] |
|  | Intron 7 | Splice-site change | c.888 + 1G > A | Intron donor site GT loss | 2 | Japan | Konishi et al. [7] |
|  | Intron 12 | Splice-site change | c.1407 + 3A > C | Intron donor site GT loss | 1 | Korea | Hong et al. [12] |
|  | Intron 15 | Splice-site change | c.1677 + 1G > C | Intron donor site GT loss | 1 | Japan | Konishi et al. [7] |
|  | Intron 18 | Splice-site change | c.2063-1G > T | Intron acceptor site AG loss | 7 | Japan | |
| Â | 9 | Korea | |||||
| Â | Intron 6 to 8 | Deletion | 3.5Â kb deletion | Exon 7 to 8 deletion | 2 | Japan | Makela et al. [16] |
EPCAM | Exon 2 | Nonsense | c.96C > A | p.Y32* | 1 | China | This study |
|  | Exon 3 | Missense | c.316A > T | p.K106X | 2 | Korean | Ko et al. [20] |
|  | Exon 3 | Missense | c.307G > A | p.G103R | 1 | China | Tang et al. [21] |
|  | Exon 3 | Missense | c.412C > T | p.R138X | 1 | China | Yuan et al. [22] |
| Â | Exon 7 | Deletion | c.823delG | p.V275Wfs*2 | 1 | China | This study |
|  | Intron 2 | Splice-site change | c.184 + 6T > G | Splicing mutation | 1 | China | This study |
|  | Intron 5 | Splice-site change | c.491 + 1G > A | Splicing mutation | 2 | Korean | Ko et al. [20] |
|  | Exon 1–9 | Large deletion | Exon 1–9 deletion | Exon 1–9 deletion | 1 | China | This study |
|  | Exon 2–5 | Large deletion | Exon 2–5 deletion | Exon 2–5 deletion | 1 | China | Tang et al. [21] |
MYO5B | Exon 4 | Missense | c.445C > T | p.Q149X | 2 (sibling) | Taiwan, China | Chen et al. [23] |
|  | Exon 9 | Missense | c.1021C > T | p.Q341X | 2 (sibling) | Taiwan, China | Chen et al. [23] |
|  | Exon 10 | Missense | c.1306G > T | p.V436F | 1 | China | This study |
|  | Exon 16 | Missense | c.1966C > T | p.R656C | 1 | China | Cheng et al. [24] |
| Â | Exon 21 | Deletion | c.2729_2731delC | p.R911Afs916* | 1 | China | Mao et al. [25] |
|  | Exon 24 | Nonsense | c.3190C > T | p.R1064* | 1 | China | This study |
|  | Intron 3 | Splice-site change | c.310 + 2Tdup | Splicing mutation | 1 | China | Cheng et al. [24] |
|  | Intron 37 | Splice-site change | IVS37-1G > C | Splicing mutation | 1 | China | Mao et al. [25] |