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Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population

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dc.contributor.authorUyanik, Bulent
dc.contributor.authorGedikbasi, Asuman
dc.contributor.authorErsoy, Melike
dc.contributor.institutionauthorUYANIK, BÜLENT
dc.date.accessioned2021-12-24T20:59:21Z
dc.date.available2021-12-24T20:59:21Z
dc.date.issued2021-12-01T00:00:00Z
dc.description.abstractAbstract: Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype–phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype–phenotype correlation in GSDs.
dc.identifier.doi10.3390/genes12121987
dc.identifier.pubmed34946936
dc.identifier.trdizintrdizin
dc.identifier.urihttp://hdl.handle.net/20.500.12645/29855
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectglycogen storage disease
dc.subjectglycogen storage disease
dc.subjectnew clinic findings
dc.subjectnovel variants
dc.titleEvaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population
dc.typeArticle
dspace.entity.typePublication
local.avesis.id5201944e-f925-4c25-8ffe-e060cd7ca75f
local.publication.isinternational1
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