1. A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.
- Author
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Gritli S, Omar S, Tartaglini E, Guannouni S, Fleming JC, Steinkamp MP, Berul CI, Hafsia R, Jilani SB, Belhani A, Hamdi M, and Neufeld EJ
- Subjects
- Anemia, Megaloblastic drug therapy, Anemia, Megaloblastic pathology, Bone Marrow Cells pathology, Cardiomyopathy, Dilated genetics, Cardiomyopathy, Dilated pathology, Child, Preschool, Deafness pathology, Diabetes Mellitus, Type 1 pathology, Female, Haplotypes, Humans, Infant, Male, Pedigree, Syndrome, Thiamine therapeutic use, Tunisia, Anemia, Megaloblastic genetics, Carrier Proteins genetics, Deafness genetics, Diabetes Mellitus, Type 1 genetics, Membrane Transport Proteins, Point Mutation
- Abstract
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.
- Published
- 2001
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