Table 2.

Clinical and genetic data in 22 adult patients with SLC12A3 mutations (Gitelman syndrome)

PatientsGenderAge (yr)MutationaType
4F53W699Rb/R852CM/M
5M57C985Y homoM/M
6F26G439S/−M/−
9M27F765fs/−F/−
11F36R209W/−M/−
13M27T820fsb homoF/F
14F43S615L/−M/−
16F32G439S/−M/−
17F37G439S/−M/−
19M26Del. ex.26 homobF/F
21M40R852C/−M/−
22F36I895Fb/−M/−
23M27C985Y/−M/−
24F35R642G homoM/M
25M25C985Y/A401fsM/F
26M52K497X/T7fsbN/F
28M43R958G/IVS24 + 1G>TM/SS
29F31S615L homoM/M
30M39G316A/A464TM/M
33F31C421Xb/S615LN/M
35F33W425Xb/−N/−
36F26A401fs/T392IbF/M
  • a Genetic variants are shown for the two alleles.

  • b Undescribed mutations.