The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM 2

We report the second known family affected by deafness‐dystonia syndrome associated with loss of function of FITM 2 . Our patient is compound heterozygous for pathogenic FITM 2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.