Moreover, AMMECR1 has previously been deleted in patients with Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis.1, 21, 22 No rare variants were identified in known hypercalciuria genes (see online supplementary results 1), although CLDN14 and PTH had suboptimal gene coverage by the Agilent V5 capture kit (45% and 86%, respectively). The gene discussed is AMMECR1; the disease is Alport syndrome.