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

Br J Haematol. 2001 May;113(2):508-13. doi: 10.1046/j.1365-2141.2001.02774.x.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Megaloblastic / drug therapy
  • Anemia, Megaloblastic / genetics*
  • Anemia, Megaloblastic / pathology
  • Bone Marrow Cells / pathology
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Dilated / pathology
  • Carrier Proteins / genetics*
  • Child, Preschool
  • Deafness / genetics*
  • Deafness / pathology
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / pathology
  • Female
  • Haplotypes
  • Humans
  • Infant
  • Male
  • Membrane Transport Proteins*
  • Pedigree
  • Point Mutation*
  • Syndrome
  • Thiamine / therapeutic use
  • Tunisia

Substances

  • Carrier Proteins
  • Membrane Transport Proteins
  • SLC19A2 protein, human
  • Thiamine