Glycogen Storage Disease diagnosis with Clinical Exome Sequencing that has CNV detection capabilities.

Abstract

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 andEducation Hospital, Istanbul, Turkey, 3Umraniye Research and Training Hospital Medical Genetics, Fatih, Turkey.Abstract:INTRODUCTION: Glycogen Storage Diseases arise from an inherited defect in one of the enzymes responsible for forming glycogen or forreleasing glucose from glycogen as it is needed by the body during activity and/or between meals. Disruptions in glycogen metabolismusually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, the spectrum of symptoms observed isvery broad, depending on the affected enzyme. There are around 16 variants of GSD, plus sub-variants, making about 25 in total. A glycogenstorage disorder occurs in about one in 20,000 to 25,000 babies. The future of gene therapy appears promising for the GSDs, promising toprovide more efficacious therapy for these disorders in the foreseeable future. METHOD: We made clinical exome sequencing thatcontains4493 genes using Illumina NextSeq-500 sequencer with Sophia Genetics Clinical Exome Solution (CES) kit version-2. All singlenucleotide variations (SNV) and also copy number variations (CNV) have analyzed by Sophia DDM® Software with filtering Glycogen StorageDiseasesrelated genes. RESULTS: In 16 patients CES revealed homozygotes SNV and one homozygote exonic deletions. In 3 patients havecompound heterozygote SNV. One patient has a hemizygous mutation on X linked inherited PHKA1 gene. 6 patients who have GSDpreliminary diagnosis but CES made the clear definitive diagnosis as different: In 4 cases has SNV, remain 2 has homozygous exonic deletionson FBP1and LPIN1 genes. CONCLUSION: CES analysis with CNV capability is efficient and can be recommended as first-tier method forGlycogenStorage Disease suspection.Author Disclosure Information: