We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Clinical and GAA gene mutation analysis in mainland Chinese patients with lateonset Pompe disease: identifying c.2238G~>~C as the most common mutation.
- Authors
Xiao Liu; Zhaoxia Wang; Weina Jin; He Lv; Wei Zhang; Chengli Que; Yu Huang; Yun Yuan
- 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.
- Subjects
GLYCOGEN storage disease type II; ALPHA-glucosidases; DNA mutational analysis; PULMONARY function tests; LYSOSOMAL storage diseases; PATIENTS
- Publication
BMC Medical Genetics, 2014, Vol 15, Issue 1, p190
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/s12881-014-0141-2