IR@PKUHSC  > 北京大学第一临床医学院  > 神经内科
学科主题临床医学
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, Xiao1; Wang, Zhaoxia1; Jin, Weina1; Lv, He1; Zhang, Wei1; Que, Chengli2; Huang, Yu3; Yuan, Yun1
刊名BMC MEDICAL GENETICS
2014-12-20
DOI10.1186/s12881-014-0141-2
15
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者Ministry of Science and Technology of China ; Genzyme, A Sanofi Company in Pompe Registry ; Ministry of Science and Technology of China ; Genzyme, A Sanofi Company in Pompe Registry
研究领域[WOS]Genetics & Heredity
关键词[WOS]GENOTYPE-PHENOTYPE CORRELATION ; DIAGNOSIS ; SPECTRUM ; IDENTIFICATION ; FREQUENCY
英文摘要

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.

语种英语
所属项目编号2011ZX09307-001-07
资助者Ministry of Science and Technology of China ; Genzyme, A Sanofi Company in Pompe Registry ; Ministry of Science and Technology of China ; Genzyme, A Sanofi Company in Pompe Registry
WOS记录号WOS:000348161800001
Citation statistics
Cited Times:11[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66847
Collection北京大学第一临床医学院_神经内科
作者单位1.Peking Univ, Dept Neurol, Hosp 1, Beijing 100034, Peoples R China
2.Peking Univ, Resp Dept Internal Med, Hosp 1, Beijing 100034, Peoples R China
3.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Sch Basic Med Sci, Beijing 100191, Peoples R China
Recommended Citation
GB/T 7714
Liu, Xiao,Wang, Zhaoxia,Jin, Weina,et al. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation[J]. BMC MEDICAL GENETICS,2014,15.
APA Liu, Xiao.,Wang, Zhaoxia.,Jin, Weina.,Lv, He.,Zhang, Wei.,...&Yuan, Yun.(2014).Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.BMC MEDICAL GENETICS,15.
MLA Liu, Xiao,et al."Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation".BMC MEDICAL GENETICS 15(2014).
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