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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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
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author Zhang, Yamei
Sun, Huihui
Wan, Naijun
author_facet Zhang, Yamei
Sun, Huihui
Wan, Naijun
author_sort Zhang, Yamei
collection PubMed
description 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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spelling pubmed-70456692020-03-09 Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib Zhang, Yamei Sun, Huihui Wan, Naijun J Int Med Res Clinical Research Reports 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. SAGE Publications 2019-10-16 2019-12 /pmc/articles/PMC7045669/ /pubmed/31617422 http://dx.doi.org/10.1177/0300060519867819 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Clinical Research Reports
Zhang, Yamei
Sun, Huihui
Wan, Naijun
Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
title Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
title_full Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
title_fullStr Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
title_full_unstemmed Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
title_short Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib
title_sort mutation analysis of slc37a4 in a patient with glycogen storage disease-type ib
topic Clinical Research Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045669/
https://www.ncbi.nlm.nih.gov/pubmed/31617422
http://dx.doi.org/10.1177/0300060519867819
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AT wannaijun mutationanalysisofslc37a4inapatientwithglycogenstoragediseasetypeib

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