Department of Genetics, Shahid Chamran University, Ahwaz, Iran.
Arch Iran Med. 2013 Feb;16(2):126-8.
Glycogen storage disease II (GSDII or Pompe disease, OMIM # 232300) is an autosomal recessive hereditary lysosomal disorder. Mutations in the GAA gene usually lead to reduced acid α-glucosidase (acid maltase, GAA, OMIM *606800, EC 3.1.26.2) activity, which results in impaired degradation and subsequent accumulation of glycogen within lysosomes. We present an Iranian boy, who was diagnosed with GSDII based upon clinical and biochemical findings. A single adenine insertion (insA) was detected at codon 693 that leads to a predicted premature stop codon at codon 736 in the GAA gene. The parents were heterozygous for the same change. According to the human genome mutation database (www.hgmd.org) and lecture reviews, the detected change is a novel mutation. We suppose that the discovered insertion in the GAA gene might lead to a reduced activity of the gene product. This assumption is in agreement with biochemical and clinical signs in the patient.
糖原贮积病 II 型（GSDII 或庞贝病，OMIM # 232300）是一种常染色体隐性遗传性溶酶体疾病。GAA 基因的突变通常导致酸性α-葡萄糖苷酶（酸性麦芽糖酶，GAA，OMIM * 606800，EC 3.1.26.2）活性降低，导致溶酶体内糖原降解和随后的积累受损。我们介绍了一名伊朗男孩，根据临床和生化发现诊断为 GSDII。在 GAA 基因的 693 密码子处检测到单个腺嘌呤插入（insA），导致 736 密码子处预测的提前终止密码子。父母均为同一变化的杂合子。根据人类基因组突变数据库（www.hgmd.org）和讲座评论，检测到的变化是一种新的突变。我们假设 GAA 基因中的发现插入可能导致基因产物活性降低。这一假设与患者的生化和临床症状一致。
