Person: ALAVANDA, CEREN
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ALAVANDA
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CEREN
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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 Metadata only Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant(2022-07-01) GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA, CEREN; ARMAN, AHMET; GEÇKİNLİ B. B., ALAVANDA C., Ates E. A., Yildirim O., ARMAN A.KBG syndrome (KBGS-OMIM:#148050) is a rare autosomal dominant disease characterized by short stature, intellectual disability, characteristic facies, skeletal anomalies and macrodontia that most commonly affect the permanent upper central incisors. In 2011, Sirmaci et al. (2011) identified heterozygous loss-of-function variants in the ANKRD11 gene on chromosome 16q24.3. So far, more than 150 patients have been reported in the literature. ANKRD11 gene encodes ankyrin repeat domain-containing protein 11 that regulates transcriptional activation (Zhang et al., 2004). Apart from single-nucleotide variations in the ANKRD11 gene, copy number variations on chromosome 16q24.3 can also cause KBG syndrome-like phenotype. In this study, we present a patient with de-novo novel missense variant in ANKRD11 gene. We have also identified skeletal bone enostosis as an additional finding, which is not previously reported.Publication Metadata only FGF3 related phenotypes : A study of lamm syndrome and otodental dysplasia patients with two novel mutations in FGF3 genee(2020-08-01) GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA, CEREN; ARMAN, AHMET; TÜRKYILMAZ A., GEÇKİNLİ B. B., ALAVANDA C., ZENGİN G., ARSLAN ATEŞ E., ARMAN A.The fibroblast growth factor (FGF) signaling pathway regulates the intracellular events which are involved in the proper formation of the internal organs and limbs during the earliest stages of embryonic development. Here, the researchers performed a detailed examination of clinical and radiological findings from syndromic cases with sensorineural hearing loss and determined their molecular genetic etiology. Family history, physical examination, laboratory and radiological examinations for three Turkish families displaying congenital sensorineural hearing loss, microtia, dental anomalies and neuromotor developmental delay were evaluated and molecular analysis of the FGF3 gene was performed. The researchers detected a heterozygous deletion of a 2.4 Megabase (Mb) segment in the region spanning 68,734,891 to 71,538,481 bases in the chromosome 11q13.3-q13.4. Interestingly, this region included the FGF3 gene in case 1, whereas two novel mutations (NM_005247: c.8T>G, p.Leu3Arg, NM_005247: c.324+2T>C) were identified in case 2 and case 3 respectively. From this study, the researchers conclude that in the absence of inner ear structures in cases of syndromic hearing loss, FGF3 gene related phenotypes should be considered and the FGF3 gene should be examined by sequence analysis and array-CGH methods for both point mutations and gross deletions.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.