Greater than 90% of AIRE mutation-negative probands with suspected familial hypoparathyroidism had apparently isolated hypoparathyroidism, and around 30% of these probands were found to have an abnormality affecting either the CASR, GATA3, GCM2, GNA11 genes or the 22q11.2 chromosomal region (Supplementary Table 2). Here, GATA3 is linked to hypoparathyroidism.