In 2010 the first homozygous loss-of-function mutation (p.Gly403dup) in the CACNA1D gene was described in a consanguineous Pakistani family with congenital deafness and sick sinus syndrome; this complex and syndromal disease was termed ‘SANDD’ (sinoatrial node dysfunction and deafness) [12]. This evidence concerns the gene CACNA1D and deafness.