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Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.


ABSTRACT: BACKGROUND: Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood. METHODS: We presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families. RESULTS: GAA mutation analysis revealed 26 different mutations, including 10 that were novel. The allelic frequency of c.2238G > C (p.W746C) was found to be 27.08% in this patient group. Respiratory dysfunction was diagnosed in 10 of 11 patients who underwent pulmonary function evaluation, although only four required ventilator support at night. CONCLUSIONS: Our findings indicate that c.2238G > C (p.W746C) is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients. The novel mutations identified in this study expand the genetic spectrum of late-onset Pompe disease, and the prevalence of respiratory dysfunction highlights the importance of monitoring pulmonary function in late-onset Pompe patients.

SUBMITTER: Liu X 

PROVIDER: S-EPMC4411720 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Liu Xiao X   Wang Zhaoxia Z   Jin Weina W   Lv He H   Zhang Wei W   Que Chengli C   Huang Yu Y   Yuan Yun Y  

BMC medical genetics 20141220


<h4>Background</h4>Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood.<h4>Methods</h4>We presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families.<h4>Results</h4>GAA  ...[more]

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