A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.
BRITISH JOURNAL OF HAEMATOLOGY(2001)
摘要
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.
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关键词
myelodysplasia,diabetes,deafness,cardiomyopathy,thiamine transporter
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