However, an analysis of the AP2S1 gene in 19 patients and families who were considered to have ADH but did not have mutations of CASR and GNA11, or of other genes associated with isolated hypoparathyroidism, such as PTH or GCMB, failed to identify coding-region mutations or copy number variants (CNVs) (Rogers et al. 2014). The gene discussed is AVP; the disease is hypoparathyroidism.