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

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 patien...

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Veröffentlicht in:	British journal of haematology 2001-05, Vol.113 (2), p.508-513
Hauptverfasser:	Gritli, Sami, Omar, Souheil, Tartaglini, Elena, Guannouni, Souha, Fleming, Judith C., Steinkamp, Mara P., Berul, Charles I., Hafsia, Raouf, Jilani, Sarrah Baltagi‐Ben, Belhani, Ali, Hamdi, Mongi, Neufeld, Ellis J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia, Megaloblastic - drug therapy Anemia, Megaloblastic - genetics Anemia, Megaloblastic - pathology Biological and medical sciences Bone Marrow Cells - pathology cardiomyopathy Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - pathology Carrier Proteins - genetics Child, Preschool deafness Deafness - genetics Deafness - pathology diabetes Diabetes Mellitus, Type 1 - genetics Diabetes Mellitus, Type 1 - pathology Errors of metabolism Female Haplotypes Hematology Humans Infant Male Medical sciences Membrane Transport Proteins Metabolic diseases Miscellaneous hereditary metabolic disorders myelodysplasia Pedigree Point Mutation Syndrome Thiamine - therapeutic use thiamine transporter Tunisia
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