Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

Luo, Xiaomei; Hu, Jiajia; Gao, Xueren; Fan, Yanjie; Sun, Yu; Gu, Xuefan; Qiu, Wenjuan

doi:10.1186/s12881-020-01010-4

Cited by 13 publications

(15 citation statements)

References 15 publications

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“…Replacement of the amino acids might affect the stability of the protein structure, which might disrupt the positioning and binding of protein substrates and their catalytic sites. The other detected PYGL mutation, gross deletion of PYGL exons 14–17, was previously reported in a Chinese patient [ 32 ], PYGL exons 14 to 17 encode approximately one-fifth of the length of the protein.…”

Section: Discussionmentioning

confidence: 86%

Features of chinese patients with sitosterolemia

Zhou

Su²,

Cai³

et al. 2022

Lipids Health Dis

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Background Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hypercholesterolemia (FH). To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized. Method Literature search was performed. The clinical features and molecular characteristics of Chinese patients with sitosterolemia were analysed. Four children with sitosterolemia and the treatment experience were described. Results Fifty-five patients with sitosterolemia have been reported in China. These patients were aged from 3 months to 67 years at diagnosis, and the median was 8 years of age. Several complications, such as xanthomas in 47 patients (85%), thrombocytopenia in 17 patients (31%), anemia in 14 patients (25%), and cardiovascular damage in 12 patients (22%), were observed. Thirty-nine patients (71%) exhibited mutations in the ABCG5 gene, 15 patients (27%) showed mutations in ABCG8, and variations in both genes occurred in one patient (2%). A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage disease type VI (GSD VI)), is reported here for the first time. The four reported patients were treated with low cholesterol and phytosterol-limited diet alone or combined with cholestyramine. Even though decreases were observed for total plasma cholesterol (TC) and low-density-lipoprotein cholesterol (LDL-C), and these levels were as low as normal in some patients, the levels of plant sterols remained above the normal range. However, TC, LDL-C and plant sterol levels remained at high levels in patients treated with a control diet control only. Conclusions The analysis reveals that different from Caucasians carrying mainly variations in ABCG8, most Chinese patients have mutations in the ABCG5 gene, and Arg446Ter, Gln251Ter, anArg389His might be hot-spot mutations in Chinese patients. The current survey provides clinical data to enable the development of a standardized protocol for the diagnosis and treatment of sitosterolemia in China.

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Section: Discussionmentioning

confidence: 86%

Features of chinese patients with sitosterolemia

Zhou

Su²,

Cai³

et al. 2022

Lipids Health Dis

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“…A total of 5 DEGs were included in the current model, with ROC and calibration curves in both training and validation cohorts showing that the model had excellent power in predicting PRAD patients. In addition, we selected PYGL, a gene located on chromosome 14q22.1 with a total of 20 exons that has been widely used as a building block for predictive models ( Luo et al, 2020 ), and investigated its role in PRAD. Results showed that high PYGL expression was an independent predictor of poor prognosis in PRAD patients, consistent with a pervious study that reported similar findings in glioma patients ( Luo et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

A Novel Model Based on Necroptosis-Related Genes for Predicting Prognosis of Patients With Prostate Adenocarcinoma

You

Zhang

et al. 2022

Front. Bioeng. Biotechnol.

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Background: Necroptosis is a newly recognized form of cell death. Here, we applied bioinformatics tools to identify necroptosis-related genes using a dataset from The Cancer Genome Atlas (TCGA) database, then constructed a model for prognosis of patients with prostate cancer.Methods: RNA sequence (RNA‐seq) data and clinical information for Prostate adenocarcinoma (PRAD) patients were obtained from the TCGA portal (http://tcga-data.nci.nih.gov/tcga/). We performed comprehensive bioinformatics analyses to identify hub genes as potential prognostic biomarkers in PRAD u followed by establishment and validation of a prognostic model. Next, we assessed the overall prediction performance of the model using receiver operating characteristic (ROC) curves and the area under curve (AUC) of the ROC.Results: A total of 5 necroptosis-related genes, namely ALOX15, BCL2, IFNA1, PYGL and TLR3, were used to construct a survival prognostic model. The model exhibited excellent performance in the TCGA cohort and validation group and had good prediction accuracy in screening out high-risk prostate cancer patients.Conclusion: We successfully identified necroptosis-related genes and constructed a prognostic model that can accurately predict 1- 3-and 5-years overall survival (OS) rates of PRAD patients. Our riskscore model has provided novel strategy for the prediction of PRAD patients’ prognosis.

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“…To date, the Human Gene Mutation Database ( http://www.hgmd.cf.ac.uk/ac/index.php ) has reported around 50 mutations in PYGL associated with GSD VI. [ 17 ] There are missense mutations, nonsense mutations, splicing mutations, synonymous mutations, open reading frame changes, etc. Missense mutations account for the majority.…”

Section: Discussionmentioning

confidence: 99%

“…The results were consistent with those reported by LUO XM. [ 17 ] The patient's family believed that they could effectively manage the disease with regular visits and treatment in the future. The second sister had developed nodular arrangement of hepatocytes at the time of diagnosis, however, with rather short-term follow up, it is unclear at present whether there would be other long-term complications.…”

Section: Discussionmentioning

confidence: 99%

Glycogen storage disease type VI with a novel PYGL mutation

Zhan¹,

Tang³

et al. 2021

Medicine

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Rationale: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. Patient concerns: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemia, and hyperlactatemia. The other patient was a 107-month-old Chinese girl with growth retardation, hepatomegaly, mild hypoglycemia, and hyperlactatemia. In order to further confirm the diagnosis, we conducted a liver biopsy and detected blood samples for their gene using IDT exon chip capture and high-throughput sequencing. Diagnoses: According to the clinical symptoms, physical examination, laboratory examinations, liver biopsy, and the genetic test finding, the 2 patients were diagnosed GSD VI. Interventions: They were treated mainly with uncooked cornstarch. Outcomes: There were 2 mutations of PYGL gene in this pedigree. c.2467C>T (p. Q823X) and c.2178-2A>C occurred both in the proband and his second sister. Lessons: As a novel mutation, c.2178-2A>C enriches the mutation spectrum of PYGL gene. The different degrees of elevated lactate is an unusual phenotype in GSD VI patients. It is not clear if this is caused by the new mutation of c. 2178-2A > C. Long-term complications remains to be observed.

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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports

Cited by 13 publications

References 15 publications

Features of chinese patients with sitosterolemia

Features of chinese patients with sitosterolemia

A Novel Model Based on Necroptosis-Related Genes for Predicting Prognosis of Patients With Prostate Adenocarcinoma

Glycogen storage disease type VI with a novel PYGL mutation

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