Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

OBJECTIVE: The aim of the study was to investigate the relationship between SLC37A4 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 SLC37A4...

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Detalles Bibliográficos
Autores principales: Zhang, Yamei, Sun, Huihui, Wan, Naijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Clinical Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045669/
https://www.ncbi.nlm.nih.gov/pubmed/31617422
http://dx.doi.org/10.1177/0300060519867819
Descripción
Sumario:OBJECTIVE: The aim of the study was to investigate the relationship between SLC37A4 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 SLC37A4 gene testing were analyzed. DNA from peripheral blood was used to analyze the SLC37A4 mutations of the patient and his parents. RESULTS: The patient carried a compound heterozygous mutation of SLC37A4, 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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