A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients
A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients
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DOI：
10.1159/000484776
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发表时间：
1997-09-01
影响因子：
5.2
通讯作者：
Chen, YT
中科院分区：
文献类型：
--
作者：
Parvari, R;Moses, S;Chen, YT
糖原贮存病III型(GSD III)是由糖原去分支酶(AGL)缺乏引起的常染色体隐性遗传病。在美国，这种疾病的总发病率约为1：100,000；然而，在以色列的北非犹太人中，这种疾病异常频繁(患病率为1：5,400，携带者患病率为1：35)。所有接受检查的北非犹太人GSD III患者都有肝脏和肌肉受累，而所有患者都表现出与肝酶缺乏有关的特征，周围肌肉损害从轻微到严重不等，并有神经肌肉受累。在该患者群体中发现了AGL基因的单一突变，即4,455位(4,455delT)纯合子T的缺失。突变4,455delT导致AGL蛋白(1,486-1,502)羧基末端17个氨基酸发生改变，正常AGL 1,532个氨基酸的最后30个氨基酸被截短。这种突变似乎是种族特有的，因为在18名不同种族来源的患者中没有发现这种突变。这是AGL基因突变在一定人群中影响相当数量的GSD III患者的第一个报告。
Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen-debranching enzyme (AGL). The overall incidence of the disease is about 1:100,000 life births in the USA; however, it is unusually frequent among North African Jews in Israel (prevalence 1:5,400, carrier prevalence 1:35). All North African Jewish GSD III patients examined have both liver and muscle involvement, While all patients showed the characteristic features related to the liver enzyme deficiency, the peripheral muscular impairment varied from minimal to severe, with neuromuscular involvement. A single mutation in the AGL gene, the deletion of T at position 4,455 (4,455delT) in homozygous form, was found in this patient population. The mutation 4,455delT results in the change of 17 amino acids at the carboxy terminus of the AGL protein (1,486-1,502) and truncation of the last 30 amino acids of the normal AGL 1,532 amino acids. The mutation appears to be ethnic specific as it was not seen in 18 patients of different ethnic origins. This is the first report of a mutation in the AGL gene affecting a considerable number of GSD III patients in a defined population.