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A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine‐responsive megaloblastic anaemia, diabetes and deafness syndrome
Author(s) -
Gritli Sami,
Omar Souheil,
Tartaglini Elena,
Guannouni Souha,
Fleming Judith C.,
Steinkamp Mara P.,
Berul Charles I.,
Hafsia Raouf,
Jilani Sarrah BaltagiBen,
Belhani Ali,
Hamdi Mongi,
Neufeld Ellis J.
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.02774.x
Subject(s) - thiamine , proband , diabetes mellitus , mutation , medicine , gene , megaloblastic anemia , endocrinology , genetics , biology , folic acid
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.