Shieh J J, Lin C Y
Graduate Institute of Microbiology and Immunology, National Yang-Ming University, Taipei, Taiwan, Republic of China.
Biochem Biophys Res Commun. 1996 Feb 15;219(2):322-6. doi: 10.1006/bbrc.1996.0231.
Glycogen storage disease type II (GSD II, Pompe's disease) is an autosomal recessive inherited disease caused by the deficiency of acid alpha-D-glucosidase. In this paper we report two unrelated Chinese patients with infantile form of GSD II who had compound heterozygotes containing a small deletion in one of the acid alpha-D-glucosidase alleles. In both of these compound heterozygotes, one allele contains the C1935A transversion which is the most common mutation in Chinese patients and the other allele contains the newly identified 4 nt deletion of coding sequence (deletion nt 1411-1414). This small deletion causes a reading frameshift and translational premature termination signal in exon 9.
II型糖原贮积病（GSD II，庞贝氏病）是一种常染色体隐性遗传病，由酸性α-D-葡萄糖苷酶缺乏引起。本文报道了两名无关的中国婴儿型GSD II患者，他们为复合杂合子，其中一个酸性α-D-葡萄糖苷酶等位基因存在小片段缺失。在这两个复合杂合子中，一个等位基因含有C1935A颠换，这是中国患者中最常见的突变，另一个等位基因含有新发现的编码序列4个核苷酸的缺失（缺失核苷酸1411 - 1414）。这种小片段缺失导致外显子9出现读码框移位和翻译提前终止信号。
