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Fig. 2 | BMC Nephrology

Fig. 2

From: Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

Fig. 2

Genetic analysis of SLC12A3 mutations in the pedigree of Gitelman syndrome. A Pedigree of the family structure. Marked symbols to show patients carried compound heterozygous mutations of SLC12A3. Mutations of c.433 C > T and c.1666 C > T was presented as black, and c.1077 C > G was showed as grey. Circles present females, and squares present males. Arrow shows proband. The III-1 and III-2 show normal phenotypes, without features of Gitelman syndrome. B Sequencing results of variants of SLC12A3. The patient (II-6, proband) and his mother (I-2), brother (II-2) and sisters (II-1; II-4; II-5) carried heterozygous mutation of C433T (Arg145Cys) and C1666T (Pro556Ser) in Exon 3 and 13 of SLC12A3, respectively. Heterozygous mutation of C1077G (Asn359Lys) in Exon 8 was detected in the patient (II-6, proband), his father (I-1), his son (III-2), and the sister with Gitelman syndrome (II-4). Arrows indicate heterozygous nucleotide substitutions

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BMC Nephrology

ISSN: 1471-2369

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