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

Authors
Gritli, S Omar, S Tartaglini, E Guannouni, S Fleming, JC Steinkamp, MP Berul, CI Hafsia, R Baltagi-Ben Jilani, S Belhani, A Hamdi, M Neufeld, EJ
Citation
S. Gritli et al., A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome, BR J HAEM, 113(2), 2001, pp. 508-513
Citations number
35
Categorie Soggetti
Hematology,"Cardiovascular & Hematology Research
Journal title
BRITISH JOURNAL OF HAEMATOLOGY
ISSN journal
00071048 → ACNP
Volume
113
Issue
2
Year of publication
2001
Pages
508 - 513
Database
ISI
SICI code
0007-1048(200105)113:2<508:ANMITS>2.0.ZU;2-P
Abstract
Thiamine-responsive megaloblastic anaemia (TRMA) syndrome with. diabetes an d deafness was found in two patients from a Tunisian kindred. The proband w as homozygous for a novel mutation, 287delG, in the high-affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patie nt exhibited defective thiamine transport. These data confirm that the SLC1 9A2 gene is the high-affinity thiamine carrier and that this novel mutation is responsible for TRMA syndrome.