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

被引：31

作者：

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

机构：

[1] Childrens Hosp, Div Hematol & Oncol, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Boston, MA 02115 USA

[3] Hop Charles Nicolle, Div Genet & Immunol, Dept Pathol, Tunis, Tunisia

[4] Hop Mongi Slim, Serv Cardiol, La Marsa, Tunisia

[5] Hop Aziza Othmana, Hematol Lab, Tunis, Tunisia

[6] Univ Ancona, Ist Biochim, Ancona, Italy

[7] Hop Mil, Serv Pediat, Tunis, Tunisia

[8] Childrens Hosp, Dept Cardiol, Boston, MA 02115 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2001年 / 113卷 / 02期

关键词：

myelodysplasia; diabetes; deafness; cardiomyopathy; thiamine transporter;

D O I：

10.1046/j.1365-2141.2001.02774.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：508 / 513

页数：6

共 36 条

[1] DIABETES-MELLITUS, THIAMINE-DEPENDENT MEGALOBLASTIC-ANEMIA, AND SENSORINEURAL DEAFNESS ASSOCIATED WITH DEFICIENT ALPHA-KETOGLUTARATE DEHYDROGENASE-ACTIVITY [J].