Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene

Figure 2

Sequence analysis of the SLC12A3 gene is shown, which encodes the thiazide-sensitive Na⁺/Cl⁻ cotransporter. The patient had compound heterozygous mutations at codon 642, namely, CGG->CAG (Arg642His) that was inherited from his father and CGG->TGG (Arg642Trp) that was inherited from his mother. His elder brother had a heterozygous mutation in this codon (R642H) (data not shown).