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BMC Med Genet. 2014 Dec 20;15:141. doi: 10.1186/s12881-014-0141-2.

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

Author information

1
Department of Neurology, Peking University First Hospital, Beijing, 100034, China. serein-lx@163.com.
2
Department of Neurology, Peking University First Hospital, Beijing, 100034, China. drwangzx@163.com.
3
Department of Neurology, Peking University First Hospital, Beijing, 100034, China. kiwifairy@126.com.
4
Department of Neurology, Peking University First Hospital, Beijing, 100034, China. cranehebmu@sina.com.
5
Department of Neurology, Peking University First Hospital, Beijing, 100034, China. neurozw@163.com.
6
Respiratory Department of Internal Medicine, Peking University First Hospital, Beijing, 100034, China. quechengli@gmail.com.
7
Department of Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing, 100191, China. huangyu@bjmu.edu.cn.
8
Department of Neurology, Peking University First Hospital, Beijing, 100034, China. yuanyun2002@sohu.com.

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.

PMID:
25526786
PMCID:
PMC4411720
DOI:
10.1186/s12881-014-0141-2
[Indexed for MEDLINE]
Free PMC Article

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