Table 3. Mutation analysis of SLC12A3 and CLCNKB in enrolled patients.
| Patients | Mutations in SLC12A3 | Reference | Mutations in CLCNKB | Reference |
|---|---|---|---|---|
| 1† | Homozygous c.1216A > C, p.N406H | (23) | ||
| 2† | Homozygous c.1216A > C, p.N406H | (23) | ||
| 3 | Homozygous c.1706C > T, p.A569V | (24) | ||
| 4 | Homozygous c.2099T > C, p.L700P | ‡ | ||
| 5 | Homozygous c.2359C > T, p.Q787* | ‡ | ||
| 6 | Homozygous c.2738G > A, p.R913Q | (14) | ||
| 7 | Homozygous c.2927C > T, p.S976F | (25) | ||
| 8 | c.179C > T, p.T60M / c.1216A > C, p.N406H | (26)/(23) | ||
| 9 | c.268C > T, p.H90Y / c.1216A > C, p.N406H | (27)/(23) | ||
| 10† | c.433C > T, p.R145C / c.1174A > C, p.T386P | (28)/‡ | ||
| 11† | c.433C > T, p.R145C / c.1174A > C, p.T386P | (28)/‡ | ||
| 12 | c.506-1G > A / c.1456G > A, p.D486N | (29)/(4) | ||
| 13 | c.536T > A, p.V179D / c.1762delG, p.A588fs*23 | ‡/‡ | ||
| 14 | c.784_785ins13, p.I262Rfs / c.1456G > A, p.D486N | ‡/(4) | ||
| 15 | c.964+1G > A / c.1216A > C, p.N406H | ‡/(23) | ||
| 16 | c.964+1G > T / c.1844C > T, p.S615L | (5)/(28) | ||
| 17 | c.964+1G > A / c.2927C > T, p.S976F | ‡/(25) | ||
| 18 | c.1897_1898insG, p.E633Gfs*56 / c.3052C > T, p.R1018* | ‡/(30) | ||
| 19† | c.1924C > T, p.R642C / c.2243C > T, p.S748L | (31)/‡ | ||
| 20† | c.1924C > T, p.R642C / c.2243C > T, p.S748L | (31)/‡ | ||
| 21 | c.1924C > T, p.R642C / c.2573T > A, p.L858H | (31)/(24) | ||
| 22 | c.2542G > A, p.D848N / c.2963T > C, p.I988T | (25)/(25) | ||
| 23 | c.2573T > A, p.L858H / c.2927C > T, p.S976F | (24)/(25) | ||
| 24 | c.961C > T, p.R321W | (5) | ||
| 25 | c.964+1G > T | (28) | ||
| 26 | c.1077C > G, p.N359K | (32) | ||
| 27 | c.1667C > T, p.P556L | (33) | ||
| 28 | c.1732G > A, p.V578M | (24) | ||
| 29 | c.2369-4G > A | ‡ | ||
| 30 | c.2660+1delG | (12) | c.1589C > T, p.P530L | ‡ |
| 31 | c.539C > A, p.T180K | (24) | Homozygous c.1830G > A, p.W610* | (34) |
| 32 | Homozygous c.595G > T, p.E199* | ‡ | ||
| 33 | Homozygous c.1166G > A, p.W389* | ‡ | ||
| 34 | c.2017A > T, p.M673L | ‡ |
*Represents a termination mutation; †Patients 1 and 2, 10 and 11, 19 and 20 were siblings; ‡This is a novel mutation, and there are no references according to this mutation.