ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature.Orphanet journal of rare diseases · 2020Pooled it
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.Orphanet journal of rare diseases · 2025Article
- Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.Orphanet journal of rare diseases · 2024Review
- Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand.World journal of clinical pediatrics · 2024Article
- Challenges in pediatric inherited/metabolic liver disease: Focus on the disease spectrum, diagnosis and management of relatively common disorders.World journal of gastroenterology · 2023Review
- Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.Human genetics · 2022Observational
- Hypoglycaemia Metabolic Gene Panel Testing.Frontiers in endocrinology · 2022Review
- Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.PloS one · 2022Article
- Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.Frontiers in genetics · 2022Article
- Emerging roles of N-linked glycosylation in brain physiology and disorders.Trends in endocrinology and metabolism: TEM · 2021Review
- Review
- Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.Scientific reports · 2021Article
- Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.Molecular genetics & genomic medicine · 2019Article
- Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.Journal of clinical medicine · 2019Article
- Molecular diagnosis of glycogen storage disease type I: a review.EXCLI journal · 2019Review
- Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.Orphanet journal of rare diseases · 2018Article
- Article
- Glycogen storage diseases-time to flip the outdated diagnostic approach centered on liver biopsy with the molecular testing.Pakistan journal of medical sciencesArticle
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeGlycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. The nonspecific clinical presentation of GSD and the lack of specific biomarkers mean that Sanger sequencing is now widely relied on for making a diagnosis. However, this gene-by-gene sequencing technique is both laborious and costly, which is a consequence of the number of genes to be sequenced and the large size of some genes.
methodsThis work reports the use of massive parallel sequencing to diagnose patients at our laboratory in Spain using either a customized gene panel (targeted exome sequencing) or the Illumina Clinical-Exome TruSight One Gene Panel (clinical exome sequencing (CES)). Sequence variants were matched against biochemical and clinical hallmarks.
resultsPathogenic mutations were detected in 23 patients. Twenty-two mutations were recognized (mostly loss-of-function mutations), including 11 that were novel in GSD-associated genes. In addition, CES detected five patients with mutations in ALDOB, LIPA, NKX2-5, CPT2, or ANO5. Although these genes are not involved in GSD, they are associated with overlapping phenotypic characteristics such as hepatic, muscular, and cardiac dysfunction.
conclusionsThese results show that next-generation sequencing, in combination with the detection of biochemical and clinical hallmarks, provides an accurate, high-throughput means of making genetic diagnoses of GSD and related diseases.Genet Med 18 10, 1037-1043.
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