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Year : 2018  |  Volume : 131  |  Issue : 4  |  Page : 448-453

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

1 Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China
2 Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853; School of Medicine, Nankai University, Tianjin 300071, China

Correspondence Address:
Dr. Chuan-Qiang Pu
Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0366-6999.225056

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Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to report the clinicopathological and genetic characteristics of five Chinese patients with late-onset Pompe disease (LOPD) who carried novel GAA gene mutations. Methods: Clinical and pathological data of patients diagnosed with glycogen storage disease at our institution from April 1986 to August 2017 were collected, and next-generation sequencing of frozen muscle specimens was conducted. Results: Of the five patients included in the study, the median disease onset age was 13 years, with a median 5 years delay in diagnosis. The patients mainly manifested as progressive weakness in the proximal and axial muscles, while one patient developed respiratory insufficiency that required artificial ventilation. In muscle biopsies, vacuoles with variable sizes and shapes appeared inside muscle fibers, and they stained positive for both periodic acid-Schiff and acid phosphatase staining. Ten GAA gene mutations, including seven novel ones (c.796C>A, c.1057C>T, c.1201C>A, c.1780C>T, c.1799G>C, c.2051C>A, c.2235dupG), were identified by genetic tests. Conclusions: The seven novel GAA gene mutations revealed in this study broaden the genetic spectrum of LOPD and highlight the genetic heterogeneity in Chinese LOPD patients.


 Abstract in Chinese





结果:5例患者的发病年龄中位数为13岁,病程中位数为5年。患者主要表现为进展性四肢近端肌肉及中轴肌无力,其中1例患者出现了呼吸困难并需要呼吸机辅助呼吸。肌肉活检可见肌纤维出现大小及形态各异的空泡样变性,PAS及ACP染色阳性。基因检测共发现到10个GAA基因突变,其中7个为新发突变(c.796C>A, c.1057C>T, c.1201C>A, c.1780C>T, c.1799G>C, c.2051C>A, c.2235dupG)。


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