A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine‐responsive megaloblastic anaemia, diabetes and deafness syndrome

Thiamine‐responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high‐affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patient exhibited defective thiamine transport. These data confirm that the SLC19A2 gene is the high‐affinity thiamine carrier and that this novel mutation is responsible for TRMA syndrome.