European Society of Human Genetics, 12 - 15 June 2021, pp.1
Glycogen Storage Disease diagnosis with Clinical Exome Sequencing that has CNV detection capabilities.
Author Block: B. Uyanık1, M. Ersoy 2, S. Canbek 3;
1Bezmialem Vakif University Faculty of Medicine Medical Genetics Department, Istanbul, Turkey, 2Bakirkoy Dr Sadi Konuk Research and
Education Hospital, Istanbul, Turkey, 3Umraniye Research and Training Hospital Medical Genetics, Fatih, Turkey.
INTRODUCTION: Glycogen Storage Diseases arise from an inherited defect in one of the enzymes responsible for forming glycogen or for
releasing glucose from glycogen as it is needed by the body during activity and/or between meals. Disruptions in glycogen metabolism
usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed is
very broad, depending on the affected enzyme. There are around 16 variants of GSD, plus sub-variants, making about 25 in total. A glycogen
storage disorder occurs in about one in 20,000 to 25,000 babies. The future of gene therapy appears promising for the GSDs, promising to
provide more efficacious therapy for these disorders in the foreseeable future. METHOD: We made clinical exome sequencing that
contains4493 genes using Illumina NextSeq-500 sequencer with Sophia Genetics Clinical Exome Solution (CES) kit version-2. All single
nucleotide variations (SNV) and also copy number variations (CNV) have analyzed by Sophia DDM® Software with filtering Glycogen Storage
Diseasesrelated genes. RESULTS: In 16 patients CES revealed homozygotes SNV and one homozygote exonic deletions. In 3 patients have
compound heterozygote SNV. One patient has a hemizygous mutation on X linked inherited PHKA1 gene. 6 patients who have GSD
preliminary diagnosis but CES made the clear definitive diagnosis as different: In 4 cases has SNV, remain 2 has homozygous exonic deletions
on FBP1and LPIN1 genes. CONCLUSION: CES analysis with CNV capability is efficient and can be recommended as first-tier method for
GlycogenStorage Disease suspection.
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