title: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.
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.
authors.affiliation: Division of Hematology and Oncology, Children's Hospital and Dana Farber Cancer Institute, Boston 02115, USA.
authors.forename: S
authors.initials: S
authors.lastname: Gritli
authors.forename: S
authors.initials: S
authors.lastname: Omar
authors.forename: E
authors.initials: E
authors.lastname: Tartaglini
authors.forename: S
authors.initials: S
authors.lastname: Guannouni
authors.forename: J C
authors.initials: JC
authors.lastname: Fleming
authors.forename: M P
authors.initials: MP
authors.lastname: Steinkamp
authors.forename: C I
authors.initials: CI
authors.lastname: Berul
authors.forename: R
authors.initials: R
authors.lastname: Hafsia
authors.forename: S B
authors.initials: SB
authors.lastname: Jilani
authors.forename: A
authors.initials: A
authors.lastname: Belhani
authors.forename: M
authors.initials: M
authors.lastname: Hamdi
authors.forename: E J
authors.initials: EJ
authors.lastname: Neufeld
mesh_terms: D000749:Anemia, Megaloblastic / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D001854:Bone Marrow Cells / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000235:genetics / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000473:pathology; D005260:Female; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D013831:Thiamine / Q000627:therapeutic use; D014416:Tunisia
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D013831:Thiamine