Objective: The aim of the study was to investigate the relationship between gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Methods: The clinical data of one patient with glycogen storage disease-type I accumulation syndrome and the results of gene testing were analyzed. DNA from peripheral blood was used to analyze the mutations of the patient and his parents.
Results: The patient carried a compound heterozygous mutation of , his mother was heterozygous for the c.572C > T (p.P191L) mutation, and his father was heterozygous for the c.359C > T (p.P120L) mutation.
Conclusion: The patient had two gene mutations: c.359C > T (p.P120L), which is closely related to glycogen storage disease-type I, and c.572C > T (p.P191L), which is a known mutation in the disease.
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| http://dx.doi.org/10.1177/0300060519867819 | DOI Listing |
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