Recently, using a combination of homozygosity mapping and whole-exome next-generation sequencing in a consanguineous kindred affected by autosomal-recessive isolated dystonia, homozygous mutations were observed in the genes LAPTM5, coding for a lysosomal transmembrane protein and HPCA, encoding the calcium-binding protein hippocalcin. The gene discussed is HPCA; the disease is Dystonia.