Table 3.

Clinical and genetic data in seven patients with Bartter syndrome (types I and III, genes SLC12A1 and CLCNKB, respectively)a

PatientsGenderAge (yr)Gene and MutationbType
15M28CLCNKB (Del. ex.6 homo)F/F
B4F4SLC12A1 (R302fs/D12fsc)F/F
B5F8SLC12A1 (C461R/−)M/−
B7F11SLC12A1 (L522fsc/−)F/−
B8F20SLC12A1 (R302fs homo)F/F
B9M14SLC12A1 (R116Hc/G652Sc)M/M
B17M24CLCNKB (P124L homo)M/M
  • a Sequence numbering: CLCNKB according to GenBank entry Z30644; SLC12A1 according to GenBank entry U58130.

  • b Genetic variants are shown for the two alleles.

  • c Undescribed mutations.