Figure 1.

Genetics of CaSR. A, Pedigree of the studied family. Representative total serum calcium values (mmol/liter) are shown below the family member’s symbol. DNA was available for study only in the index patient (indicated by arrow), her sister, and their mother. B, CaSR sequencing from the affected individuals. The proband is homozygous for a four-nucleotide deletion with a thymidine insertion (circled); the mother is heterozygous. A normal control is shown with nucleotides 1031–1034 circled. C, Amino acid alignment of the loop III region of CaSR from eight mammals, showing conservation of His344 and Asn345.