Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Eur J Med Genet. 2020 Dec;63(12):103997. doi: 10.1016/j.ejmg.2020.103997. Epub 2020 Jul 22.
Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Early and precise diagnosis can be highly important for the treatment, genetic counselling and prenatal diagnosis of this disease in potential candidates. Considering that Pompe disease studies have not been frequently conduced in China, to better understand the clinical course and molecular defects among this group, our study examined 21 Chinese patients with classic infantile Pompe disease. The median age of symptom onset in the patients was 2.5 months (0-7 months), and the median age of confirmed diagnosis was 5.6 months (2-12 months). GAA gene mutation analysis revealed 17 different mutations, two of which were novel (c.538C>A and c.2096T>C). The most frequent mutation in these patients was c.1935C>A, accounting for 40.5% (17/42 alleles) of the mutations. These results confirm the high prevalence of the c.1935C>A mutation in Chinese patients with classic infantile Pompe disease. Furthermore, identification of the novel alterations in the GAA gene will help to broaden the spectrum of the GAA mutations causing Pompe disease and to better understand the potential pathogenic role of each change.
庞贝病是一种常染色体隐性遗传病，由溶酶体酶酸性α-葡萄糖苷酶（GAA）缺乏引起。早期和准确的诊断对于这种疾病的治疗、遗传咨询和潜在候选者的产前诊断非常重要。考虑到在中国尚未频繁进行庞贝病研究，为了更好地了解这组患者的临床过程和分子缺陷，我们研究了 21 名患有典型婴儿型庞贝病的中国患者。患者的症状起始中位年龄为 2.5 个月（0-7 个月），确诊诊断的中位年龄为 5.6 个月（2-12 个月）。GAA 基因突变分析显示 17 种不同的突变，其中两种为新突变（c.538C>A 和 c.2096T>C）。这些患者中最常见的突变是 c.1935C>A，占突变的 40.5%（17/42 个等位基因）。这些结果证实了 c.1935C>A 突变在中国典型婴儿型庞贝病患者中的高发生率。此外，鉴定 GAA 基因中的新改变将有助于拓宽引起庞贝病的 GAA 突变谱，并更好地了解每个变化的潜在致病作用。
