Molecular characterization of Egyptian patients with glycogen storage disease type IIIa
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa
复制标题
埃及 IIIa 型糖原累积病患者的分子特征
DOI：
10.1007/s10038-005-0291-3
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发表时间：
2005
影响因子：
3.5
通讯作者：
M. Okubo
中科院分区：
文献类型：
--
作者：
Y. Endo;E. Fateen;Y. Aoyama;A. Horinishi;T. Ebara;T. Murase;Y. Shin;M. Okubo
AbstractGlycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by a deficiency in the glycogen debranching enzyme. The spectrum of AGL mutations in GSD IIIa patients depends on ethnic group—prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe islands, because of the founder effect, whereas heterogeneous mutations are responsible for the pathogenesis in Japanese patients. To shed light on molecular characteristics in Egypt, where high rate of consanguinity and large family size increase the frequency of recessive genetic diseases, we have examined three unrelated patients from the same area in Egypt. We identified three different individual AGL mutations; of these, two are novel deletions [4-bp deletion (750-753delAGAC) and 1-bp deletion (2673delT)] and one the nonsense mutation (W1327X) previously reported. All are predicted to lead to premature termination, which completely abolishes enzyme activity. Three consanguineous patients are homozygotes for their individual mutations. Haplotype analysis of mutant AGL alleles showed that each mutation was located on a different haplotype. Our results indicate the allelic heterogeneity of the AGL mutation in Egypt. This is the first report of AGL mutations in the Egyptian population.
糖原脱支酶基因的多态性标记允许对 III 型糖原贮积病家族进行连锁分析。
影响因子：
4
作者：
Shen,J;Liu,HM;Bao,Y;Chen,YT
通讯作者：
Chen,YT
影响因子：
3.5
作者：
Bao, Y;Yang, BZ;Chen, YT
通讯作者：
Chen, YT
影响因子：
4.4
作者：
Bao, Y;Dawson, TL;Chen, YT
通讯作者：
Chen, YT