Person: GEÇKİNLİ, BİLGEN BİLGE
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GEÇKİNLİ
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BİLGEN BİLGE
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Publication Open Access Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia(2023-02-01) GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA, CEREN; Kiraz A., Sezer O., ALEMDAR A., Canbek S., Duman N., BİŞGİN A., Cora T., Ruhi H. I., Ergoren M. C., GEÇKİNLİ B. B., et al.Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department\"s Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.Publication Open Access Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium(2022-06-01) ARMAN, AHMET; GEÇKİNLİ, BİLGEN BİLGE; DÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., ARTAN S., Cora T., ŞAHİN F. İ., DURSUN A., et al.Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.Publication Open Access Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome(2023-01-01) ALAVANDA, CEREN; GEÇKİNLİ, BİLGEN BİLGE; DEMİRCİOĞLU, SERAP; ARMAN, AHMET; ALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A.Schaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi Syndrome, joint contractures, and ASD were more commonly detected in in this syndrome. Recently, it was shown that truncating variants in the paternal allele of the MAGEL2 gene cause SHFYNG. Here, we present two patients diagnosed with SHFYNG syndrome having two different novel truncating variants in the MAGEL2 gene, one paternally inherited and one de novo. One patient had obesity, brachydactyly and dysmorphic features, and the other patient presented with contractures, severe hypotonia and early death. This is the first report of Turkish SHFYNG syndrome cases presented to emphasize the phenotypic diversity of the syndrome.Publication Open Access Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family(KARGER, 2021) ARMAN, AHMET; Ates, Esra Arslan; Turkyilmaz, Ayberk; Delil, Kenan; Alavanda, Ceren; Soylemez, Mehmet Ali; Geckinli, Bilgen Bilge; Ata, Pinar; Arman, AhmetPolycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearly half of the patients suffers from renal failure in the 7th decade of life. Autosomal recessive PKD (ARPKD) is a rarer and more severe form presenting in childhood. Whole-exome sequencing (WES) analyses was performed to investigate molecular causes of the disease in the fetus. In this study, we present 2 fetuses prenatally diagnosed with PKD in a consanguineous family. WES analysis of the second fetus revealed a homozygous variant (c.740+1G>A) in DNAJB11 which is related to ADPKD. This study reveals that DNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the DNAJB11-related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.Publication Open Access Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome(WILEY, 2021-01) GEÇKİNLİ, BİLGEN BİLGE; Dyment, David A.; O'Donnell-Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping-Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; Choi, Jungmin; Chudley, Albert E.; Clericuzio, Carol L.; Cox, Gerald F.; Curry, Cynthia; de Boer, Elke; de Vries, Bert B. A.; Dunn, Kathryn; Dutmer, Cullen M.; England, Eleina M.; Fahrner, Jill A.; Geckinli, Bilgen B.; Genetti, Casie A.; Gezdirici, Alper; Gibson, William T.; Gleeson, Joseph G.; Greenberg, Cheryl R.; Hall, April; Hamosh, Ada; Hartley, Taila; Jhangiani, Shalini N.; Karaca, Ender; Kernohan, Kristin; Lauzon, Julie L.; Lewis, M. E. Suzanne; Lowry, R. Brian; Lopez-Giraldez, Francesc; Matise, Tara C.; McEvoy-Venneri, Jennifer; McInnes, Brenda; Mhanni, Aziz; Garcia Minaur, Sixto; Moilanen, Jukka; Nguyen, An; Nowaczyk, Malgorzata J. M.; Posey, Jennifer E.; Ounap, Katrin; Pehlivan, Davut; Pajusalu, Sander; Penney, Lynette S.; Poterba, Timothy; Prontera, Paolo; Doriqui, Maria Juliana Rodovalho; Sawyer, Sarah L.; Sobreira, Nara; Stanley, Valentina; Torun, Deniz; Wargowski, David; Witmer, P. Dane; Wong, Isaac; Xing, Jinchuan; Zaki, Maha S.; Zhang, Yeting; Boycott, Kym M.; Bamshad, Michael J.; Nickerson, Deborah A.; Blue, Elizabeth E.; Innes, A. MicheilDubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a Dubowitz-like condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.