Browsing by Author "Yucesan, Emrah"

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • Thumbnail Image
    Item
    COMBINED ANALYSIS OF LINKAGE AND WHOLE EXOME SEQUENCING REVEALS CIC AS A CANDIDATE GENE FOR ISOLATED DYSTONIA
    (ISTANBUL UNIV, FAC MEDICINE, PUBL OFF, 2021-01-01) Salman, Baris; Yucesan, Emrah; Samanci, Bedia; Bilgic, Basar; Hanagasi, Hasmet; Gurvit, Ibrahim; Ozbek, Ugur; Ugur Iseri, Sibel
    Objective: To explore the underlying genetic variations and mechanisms in a family affected by isolated dystonia. Material and Method: We employed whole genome Single Nu-cleotide Polymorphism (SNP) based linkage analysis along with whole exome sequencing (WES) in a consanguineous family pre -senting with isolated dystonia. An in-house pipeline compiled for WES analysis along with in-depth in silico prediction algo-rithms were used to assess the associated data produced in this study. Sanger sequencing was used for variant confirmation and segregation. Results: Data analysis included locus oriented WES variant prior-itization and cryptic splicing predictions. We detected a homo-zygous and synonymous variation rs748449895 (NM\_015125.4: c.4143C>T
  • No Thumbnail Available
    Item
    Copy-number variations in adult patients with chronic immune thrombocytopenia
    (TAYLOR \& FRANCIS LTD, 2020-01-01) Yucesan, Emrah; Ng, Ozden Hatirnaz; Yalniz, Fevzi Firat; Yilmaz, Hulya; Salihoglu, Ayse; Sudutan, Tugce; Eskazan, Ahmet Emre; Ongoren, Seniz; Baslar, Zafer; Soysal, Teoman; Ozbek, Ugur; Sayitoglu, Muge; Ar, M. Cem
    Objectives Immune thrombocytopenia (ITP) is an autoimmune disease with heterogeneous background. FCGR2C mutations were defined in one third of the patients but genetic players have not been fully elucidated yet. Although childhood ITP present as benign, ITP in adulthood is chronic disease with treatment challenges. This study aimed to focus on adult ITP patients using a whole genome genotyping that is valuable approach to identify the responsible genomic regions for the disease. Methods Herein 24 adult primary-refractory for ITP patients were evaluated using HumanCytoSNP12BeadChip,Illumina. Forty-six age and sex matched healthy individuals, and ptients awith nonhematological conditions were analyzed as controls. Identified CNV regions were verified by qRTPCR. T-cell receptor beta and delta (TCRB/TCRG) clonality were assessed by heteroduplex analysis in mosaic cases. Results Several CNV losses and gains were defined (losses:2q,7q,17q,19p, and gains: 1q,2p,3q,4q,7q,10q,12p,13q,14q,15q,17p,20q,21p,22q,Xp). Mosaic changes of different sizes (0.2-17.77Mb) were identified in five patients and three of them showed clonality. CNV regions that were unique to ITP patients were identified for the first time and among these genes, those related to immune regulation, and cellular trafficking were noteworthy. Conclusion: Identified CNV regions harbor several candidate genes, the functions of which might shed light on the pathogenesis of chronic ITP.