Table 1.

Clinical and genetic data in 19 pediatric patients with SLC12A3 mutations (Gitelman syndrome)a

PatientsGenderAge (yr)MutationbType
8M13D62N homoM/M
20M15Del. ex.26 homocF/F
39F16C421Gc/C985YM/M
B1M11A464T/−M/−
B2F12G186D/M581KcM/M
B3F11G650R/R852CM/M
B10M7G731R/IVS22–2A>GcM/SS
B11M7V677M/R209WM/M
B12M7A401fs homoF/F
B13F16R209W/G186DM/M
B14M15R958G homoM/M
B15M15T383Mc/R80fscM/F
B16M17R852C/−M/−
B18M10R80fsc/−F/−
B19F8S615L/R642HM/M
B20F10T163M/−M/−
B21F8T163M/−M/−
B22M17D839N/IVS3 −1G>AcM/SS
B23F7R862Pc/Q95fsM/F
  • a SLC12A3 sequence numbering according to GenBank entry X91220. del#, exon deletion; fs, frameshift; homo, homozygous mutation; IVS(#), intron; M, missense mutation; F, frameshift mutation; N, nonsense mutation (stop); SS, splice-site mutation; −, undetected mutation.

  • b Genetic variants are shown for the two alleles.

  • c Undescribed mutations.