Figure 1.

Clinical and molecular data regarding patients from two families with infantile familial HC with NC. a, Pedigrees of patient families. Blackened symbols indicate affected individuals; unblackened symbols indicate nonaffected individuals; squares indicate males; circles indicate females. Family B is consanguineous (see text for details). b, Sequencing data for the region in the CLDN16 gene carrying the T233R mutation. Homozygous (−/−) amino acid exchange (T→R) was detected in affected patients A3, A4, A6, and B6; heterozygous (+/−) mutations were detected in the nonaffected members A1, A2, A7, B1, and B2. Individuals B3, B4, and B5 were not available for analysis (“n.d.”). Sequences in the chromatogram read from 3′ to 5′, and the mutation is indicated with an asterisk (*). The coding and corresponding amino acid sequences are provided above the chromatogram. c, Urinary Ca²⁺ excretion decreases to levels within the normal range when patients reach adolescence. Ca²⁺ excretion was measure in affected members of families A and B during follow-up.