The First Case Of Deafness-Dystonia Syndrome Due To Compound Heterozygous Variants In Fitm2

Key Clinical MessageWe report the second known family affected by deafness-dystonia syndrome associated with loss of function of FITM2. Our patient is compound heterozygous for pathogenic FITM2 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.