一个患有硫胺素反应性巨幼细胞贫血、糖尿病和耳聋综合征的突尼斯家族中SLC19A2基因的新突变。
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.
作者信息
Gritli S, Omar S, Tartaglini E, Guannouni S, Fleming J C, Steinkamp M P, Berul C I, Hafsia R, Jilani S B, Belhani A, Hamdi M, Neufeld E J
机构信息
Division of Hematology and Oncology, Children's Hospital and Dana Farber Cancer Institute, Boston 02115, USA.
出版信息
Br J Haematol. 2001 May;113(2):508-13. doi: 10.1046/j.1365-2141.2001.02774.x.
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.
在一个突尼斯家族的两名患者中发现了伴有糖尿病和耳聋的硫胺素反应性巨幼细胞贫血（TRMA）综合征。先证者在高亲和力硫胺素转运蛋白基因SLC19A2中存在一种新的突变287delG，为纯合子。我们证明该患者的成纤维细胞表现出硫胺素转运缺陷。这些数据证实SLC19A2基因是高亲和力硫胺素载体，且这种新突变是TRMA综合征的病因。
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