Figure 2.

Genetic findings of seven families and variants review from literatures. (A) Seven families with SLC12A6 heterozygous variants in our study. Arrows indicate proband. −: wild type, +: variant positive (B) The variant residues detected in our study are highly conserved in human KCC family members and across species. (C) Location of SLC12A6 heterozygous and homozygous variants. Heterozygous variants are labeled above the protein, and variants detected in our study are underlined. Reported homozygous variants are labeled below the protein diagram.