Early diagnosis of Gitelman syndrome in a young child: A case report

Figure 1 Genetic research of the family. A: Patient’s family tree; B: Genetic analysis of SLC12A3 in patient’s family. a1 and b1: Father, a carrier of GS-associated mutations, SLC12A3: c.179C>T in exon1; a2 and b2: Mother, a carrier of GS-associated mutations, c.965-1_976 delins ACCGAAAATTTT in exon8; a3 and b3: The eldest daughter; a4 and b4: The third eldest daughter; a5 and b5: Index patient; a3-a5 and b3-b5: Revealed compound heterozygous mutations of the gene SLC12A3: c.179C>T in exon1 and c.965-1_976delinsACCGAAAATTTT in exon8; b6: Gene analysis of Wild type.