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- Title
Clinical features and genetic analysis of 7 patients with late - onset glycogen storage disease type II.
- Authors
YANG Juan; CAO Ji-qing; LIU Zhen-hua; ZHAN Yi-xin; LIANG Ying-yin; MO Gui-ling; LI Ya-qin; SUN Yi-ming; LI Min-zi; LI Jing; ZHANG Cheng
- Abstract
Objective In order to make a well understanding on glycogen storage disease type II (GSD II), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease type II . Methods Clinical data of 7 patients with late-onset glycogen storage disease type 11 were collected and acid α-glucosidase (GAA) gene sequencing was performed. Results Seven patients who belong to 4 families were at the age of 13 -- 31 years old. The first symptom occurred at 6 -- 17 years old, and the age at first and definitive diagnosis was 12 -- 29 and 12 -- 30 years old, respectively. The initial symptoms were mostly related to limb girdle muscular atrophy and weakness. The GAA activity ranged from 0 to 5.27 nmol/(mg h). Sequencing analysis revealed 14 sequence variants, including 2 novel mutations (Q81X and c.l355_1356delC), 2 pseudodeficiency alleles (G576S and E689K), 8 polymorphic loci, and 2 sequence variants previously related with glycogen storage disease type II pathogenesis (W746C and D645E). Conclusions Due to the apparently diagnostic delay, prognosis of patients with glycogen storage disease type 11 could be improved by increasing the clinician's awareness of the disease. It is essential to combine clinical history with GAA activity and GAA gene analysis when we make a definitive diagnosis of glycogen storage disease type 11 . Though siblings share the same set of GAA mutations, the phenotype regarding the course and severity of disease could vary substantially.
- Subjects
GENETIC testing; GENES; GLYCOGEN storage disease; MEDICAL care; GENETIC mutation; NEUROSURGERY; NEUROLOGY; PATIENTS; HEALTH literacy; SYMPTOMS; DIAGNOSIS
- Publication
Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, Vol 14, Issue 5, p405
- ISSN
1672-6731
- Publication type
Article
- DOI
10.3969/j.issn.1672.6731.2014.05.008