Universität zu Köln

Ornek Erguzeloglu, Cemre, Kara, Bulent, Karacan, Ilker, Ozdemir, Ozkan, Kesim, Yesim, Bebek, Nerses, Ozbek, Ugur and Ugur Iseri, Sibel Aylin (2020). SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME. J. Istanb. Fac. Med., 83 (3). S. 177 - 184. ISTANBUL: ISTANBUL UNIV, FAC MEDICINE, PUBL OFF. ISSN 1305-6441

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Abstract

Objective: 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ornek Erguzeloglu, Cemre UNSPECIFIED UNSPECIFIED UNSPECIFIED Kara, Bulent UNSPECIFIED UNSPECIFIED UNSPECIFIED Karacan, Ilker UNSPECIFIED UNSPECIFIED UNSPECIFIED Ozdemir, Ozkan UNSPECIFIED UNSPECIFIED UNSPECIFIED Kesim, Yesim UNSPECIFIED UNSPECIFIED UNSPECIFIED Bebek, Nerses UNSPECIFIED UNSPECIFIED UNSPECIFIED Ozbek, Ugur UNSPECIFIED UNSPECIFIED UNSPECIFIED Ugur Iseri, Sibel Aylin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-328901
DOI:	10.26650/IUITFD.2019.0064
Journal or Publication Title:	J. Istanb. Fac. Med.
Volume:	83
Number:	3
Page Range:	S. 177 - 184
Date:	2020
Publisher:	ISTANBUL UNIV, FAC MEDICINE, PUBL OFF
Place of Publication:	ISTANBUL
ISSN:	1305-6441
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Medicine, General & Internal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/32890