PKD1 and polycystic kidney disease: Previous genetic testing in this individual had uncovered a heterozygous NM_000388.4:c.571G>C; p.(Glu191Gln) variant in CASR from her mother and a known pathogenic NM_001009944.3:c.6487C>T; p.(Arg2163Ter) variant in PKD1 from her father (http://www.ncbi.nlm.nih.gov/clinvar/variation/433972) which explained the hypocalcemia and polycystic kidney disease.