SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME

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dc.contributor.authorOrnek Erguzeloglu, Cemre
dc.contributor.authorKara, Bulent
dc.contributor.authorKaracan, Ilker
dc.contributor.authorOzdemir, Ozkan
dc.contributor.authorKesim, Yesim
dc.contributor.authorBebek, Nerses
dc.contributor.authorOzbek, Ugur
dc.contributor.authorUgur Iseri, Sibel Aylin
dc.date.accessioned2023-02-21T12:39:53Z
dc.date.available2023-02-21T12:39:53Z
dc.date.issued2020-01-01
dc.description.abstractObjective: Glucose transporter-1 deficiency syndrome (GLUT1- DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de novo pathogenic variations in the SLC2A1 (solute carrier family2 member1) gene. Materials and Methods: In this study, all coding exons and neighboring intronic regions of SLC2A1 were Sanger sequenced in 12 patients with clinically suspected GLUT1-DS. For de novo variations revealed after sequencing and segregation analysis, we also performed genome wide Single Nucleotide Polymor- phism (SNP) genotyping to confirm parental relatedness with the proband. In patients without any sequence variations, real-time quantitative real-time polymerase chain reaction (qPCR) was applied to determine the presence of any copy number variations (CNV). Results: Sanger sequencing followed by bioinformatics analysis, segregation in the family and SNP array genotyping revealed two novel and de novo pathogenic variations associated with the GLUT1-DS phenotype in 2 patients. qPCR results were compatible with one copy loss of SLC2A1 gene in another patient. All variations identified herein are likely to have caused null al-leles and resulted in GLUT1-DS through haplo insufficiency. Disscussion : In this study we used a series of molecular genetic approaches in order to identify all possible variations in SLC2A1 that may be associated with GLUT1-DS. This collective effort fa- cilitated diagnosis in 3 patients.
dc.description.issue3
dc.description.issueJUN 29
dc.description.pages177-183
dc.description.volume83
dc.identifier.doi10.26650/IUITFD.2019.0064
dc.identifier.urihttps://hdl.handle.net/11443/2554
dc.identifier.urihttp://dx.doi.org/10.26650/IUITFD.2019.0064
dc.identifier.wosWOS:000548277100002
dc.publisherISTANBUL UNIV, FAC MEDICINE, PUBL OFF
dc.relation.ispartofJOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
dc.subjectGlucose transporter-1 deficiency syndrome (GLUT1-DS)
dc.subjectSLC2A1
dc.subjectde novo variations
dc.subjectCNV analysis
dc.subjectSNP array
dc.titleSCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME
dc.typeArticle
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