Two heterozygous variants of interest were identified in deafness-related genes, one of which was discounted because it was inherited from an unaffected father (MAP1B) and the other of which was discounted because the patient phenotype did not match that associated with the gene (thiamine responsive megaloblastic anaemia syndrome, SLC19A2) (Supplementary Table S1). The gene discussed is SLC19A2; the disease is deafness.