Person: ÖZEMRİ SAĞ, ŞEBNEM
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ÖZEMRİ SAĞ
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ŞEBNEM
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Publication A rare case of fructose-1,6-bisphosphatase deficiency: A delayed diagnosis story(Walter De Gruyter Gmbh, 2020-10-01) Tuncel, Gulten; Ergören, Mahmut Çerkez; Sag, Sebnem Ozemri; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Sehime Gulsun; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Tıp Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; 0000-0002-9802-0880; AAH-8355-2021; AAG-8385-2021Objectives: Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.Case presentation: Our patient was 17-years-old when she was diagnosed with the disease. Initial sequencing analysis with Ion Torrent technology failed to detect the gross deletion that covered complete exon 2 (c.-24-26_170 + 5192del) of FBP1 gene and caused the delay in diagnosis. Deletion was then detected when sequencing was performed in an Illumina MiSeq platform.Conclusions: This case emphasizes the importance of sequencing data analysis for precise diagnosis of rare diseases and therapy planning.Publication Diagnostic efficiency of clinical exome solution panel in patients with hearing loss/hereditary deafness by using next generation sequencing(Springernature, 2020-12-01) ; Sağ, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Alemdar, A.; ALEMDAR, ADEM; Yılmaz, M.; Aliyeva, L.; ALIYEVA, LAMIYA; Temel Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Top Anabilim Dalı.; 0000-0002-9802-0880; HIZ-7332-2022; AAH-8355-2021; AAG-8385-2021Publication Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia(Wiley, 2023-02-01) Kiraz, Aslıhan; Sezer, Özlem; Alemdar, Adem; Canbek, Sezin; Duman, Nilgün; Bişgin, Atıl; Cora, Tülin; Ruhi, Hatice Ilgın; Ergören, Mahmut Çerkez; Geçkinli, Bilgen Bilge; Sağ, Şebnem Özemri; Gözden, Hilmi Erdem; Öz, Özlem; Altıntaş, Zühal Mert; Yalçıntepe, Sinem; Keskin, Adem; Tak, Ayşegüel Yabacı; Paskal, Şeyma Aktaş; Yürekli, Uğur Fahri; Demirtaş, Mercan; Evren, Emine Ünal; Hanta, Abdullah; Başdemirci, Müeşerref; Süer, Kaya; Balta, Burhan; Kocak, Nadir; Karabulut, Halil Guerhan; Çobanoğulları, Havva; Ateş, Esra Arslan; Bozdoğan, Sevcan Tuğ; Eker, Damla; Ekinci, Sadiye; Nergiz, Sueleyman; Tuncali, Timur; Yagbasan, Serap; Alavanda, Ceren; Kutlay, Nuket Yurur; Evren, Hakan; Erdogan, Murat; Altiner, Sule; Sanlidag, Tamer; Gonen, Gizem Akinci; Vicdan, Arzu; Eras, Nazan; Eker, Hatice Kocak; Balasar, Özgür; Tuncel, Gulten; Dündar, Munis; Gürkan, Hakan; ALEMDAR, ADEM; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Gozden, Hilmi Erdem; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; ELA-3536-2022; IYV-1877-2023; JMQ-2372-2023; IRT-7350-2023Thrombotic 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 & PLUSMN; 15.20; 33.89 & PLUSMN; 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 BRCA variations risk assessment in breast cancers using different artificial intelligence models(Mdpi, 2021-11-08) Şentürk, Niyazi; Tuncel, Gülten; Doğan, Berkcan; Aliyeva, Lamiya; Dündar, Mehmet Sait; Özemri Sağ, Şebnem; Mocan, Gamze; Temel, Şehime Gülsün; Dündar, Munis; Ergoren, Mahmut Çerkez; DOĞAN, BERKCAN; ALIYEVA, LAMIYA; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; 0000-0001-8061-8131; CCG-4609-2022 ; AAH-8355-2021 ; AAD-5249-2020; AAG-8385-2021Artificial intelligence provides modelling on machines by simulating the human brain using learning and decision-making abilities. Early diagnosis is highly effective in reducing mortality in cancer. This study aimed to combine cancer-associated risk factors including genetic variations and design an artificial intelligence system for risk assessment. Data from a total of 268 breast cancer patients have been analysed for 16 different risk factors including genetic variant classifications. In total, 61 BRCA1, 128 BRCA2 and 11 both BRCA1 and BRCA2 genes associated breast cancer patients' data were used to train the system using Mamdani's Fuzzy Inference Method and Feed-Forward Neural Network Method as the model softwares on MATLAB. Sixteen different tests were performed on twelve different subjects who had not been introduced to the system before. The rates for neural network were 99.9% for training success, 99.6% for validation success and 99.7% for test success. Despite neural network's overall success was slightly higher than fuzzy logic accuracy, the results from developed systems were similar (99.9% and 95.5%, respectively). The developed models make predictions from a wider perspective using more risk factors including genetic variation data compared with similar studies in the literature. Overall, this artificial intelligence models present promising results for BRCA variations' risk assessment in breast cancers as well as a unique tool for personalized medicine software.Publication Targeted high-throughput sequencing analysis results of osteogenesis imperfecta patients from different regions of Turkey(Mary Ann Liebert, 2021-01-01) Demir, Selma; Yalçıntepe, Sinem; Atlı, Emine İkbal; Sanrı, Aslıhan; Yıldırım, Ruken; Tütüncüler, Filiz; Çelik, Mehmet; Atlı, Engin; Sağ, Şebnem Özemri; Eker, Damla; Temel, Şehime; Gürkan, Hakan; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; AAH-8355-2021 ; AAG-8385-2021Objective: Osteogenesis imperfecta (OI) includes a group of disorders characterized by susceptibility to bone fractures with different severities. The increasing number of genes that may underlie the disorder, along with the broad phenotypic spectrum that overlaps with other skeletal diseases, provided a compelling case for the use of high-throughput sequencing (HTS) technology as an aid to OI diagnoses. The aim of this analysis was to present the data from our 5-year targeted HTS results, that includes the reporting of 9 novel and 24 known mutations, found in OI patients, from 5 different regions of Turkey.Materials and Methods: We performed a retrospective cross-sectional study, reporting the HTS results of 43 patients (23 female and 20 male; mean age: 9.5 years), directed to our center with a suspicion of OI between February 2015 and May 2020. Genetic analyses were also performed for 24 asymptomatic parents to aid the segregation analyses. We utilized an HTS panel targeting the coding regions of 57 genes associated with a reduction, increase, or abnormal development of bone mineralization. In addition, we sequenced the entire coding region of the IFITM5 gene through HTS.Results: Thirty-nine patients had at least one pathogenic/likely pathogenic variation (90.69%) in the COL1A1 (56.41%), COL1A2 (20.51%), FKBP10 (7.7%), P3H1 (5.13%), IFITM5 (5.13%), CTRAP (2.56%), or TMEM38B (2.56%) genes. Nine of the determined pathogenic/likely pathogenic variations were novel. The recurrent pathogenic mutations were c.1081C>T (p.Arg361Ter) (3/43), c.1405C>T (p.Arg469Ter) (2/43), and c.3749del (p.Gly1250AlafsTer81) in COL1A1 gene, along with c.-14C>T variation in the 5'UTR of the IFITM5 gene (2/43) and the c.890_897dup variation in the FKBP10 gene (2/43). Three out of 43 patients were carrying at least one additional variant of unknown significance, highlighting the importance of a multigene panel approach and segregation analyses.Conclusion: We suggest that a targeted HTS panel is a feasible tool for genetic diagnosis of OI in patients.Publication Identification of a novel de novo COMP gene variant as a likely cause of Pseudoachondroplasia(Lippincott Williams & Wilkins, 2021-08-01) Tuncel, Gülten; Akcan, Neşe; Gül, Şeref; Sağ, Şebnem Ö.; Bundak, Ruveyde; Mocan, Gamze; Temel, Şehime G.; Ergoren, Mahmut C.; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji Ve Embriyoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Sağlık Bilimleri Enstitüsü/Translasyonel Tıp Bölümü.; 0000-0002-9802-0880; AAH-8355-2021; AAG-8385-2021Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare genetic diseases. Pseudoachondroplasia (PSACH, MIM 177170) is a rare disease inherited in an autosomal dominant manner. It is known that variations in the cartilage oligomeric matrix protein (COMP) gene are associated with the disease. Here, we report a 39-month-old boy with short stature. He gave visible growth and development delayed phenotype after 12 months. Further genetic resequencing analysis was carried out to identified the disease-causing variant. Furthermore, computational approaches were used to characterize the effect of the variant. In this study, we identify and report a novel variation in the COMP gene, c.1420_1422del (p.Asn47del), causing a spontaneous form of PSACH in our patient. Our in silico model indicated that any mutational changes in this region are very susceptible to PASCH phenotype. Overall, this study is the first PSACH case in the Turkish Cypriot population. Moreover, this finding contributes to the concept that the genotype-phenotype correlation in COMP is still unknown and also improves our understanding of this complex disorder.Publication Alzheimer disease associated loci: APOE single nucleotide polymorphisms in Marmara Region(MDPİ, 2024-05-01) Ismail, Aya Badeea; Dundar, Mehmet Sait; Erguzeloglu, Cemre Ornek; Ergoren, Mahmut Cerkez; Alemdar, Adem; Sag, Sebnem Ozemri; Temel, Sehime Gulsun; Alemdar, Adem; ALEMDAR, ADEM; Sağ, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Genetik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.Alzheimer's disease (AD) is a major global health challenge, especially among individuals aged 65 or older. According to population health studies, Turkey has the highest AD prevalence in the Middle East and Europe. To accurately determine the frequencies of common and rare APOE single nucleotide polymorphisms (SNPs) in the Turkish population residing in the Marmara Region, we conducted a retrospective study analyzing APOE variants in 588 individuals referred to the Bursa Uludag University Genetic Diseases Evaluation Center. Molecular genotyping, clinical exome sequencing, bioinformatics analysis, and statistical evaluation were employed to identify APOE polymorphisms and assess their distribution. The study revealed the frequencies of APOE alleles as follows: epsilon 4 at 9.94%, epsilon 2 at 9.18%, and epsilon 3 at 80.68%. The gender-based analysis in our study uncovered a tendency for females to exhibit a higher prevalence of mutant genotypes across various SNPs. The most prevalent haplotype observed was epsilon 3/epsilon 3, while rare APOE SNPs were also identified. These findings align with global observations, underscoring the significance of genetic diversity and gender-specific characteristics in comprehending health disparities and formulating preventive strategies.Publication The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease(Turkish Neurosurgical, 2021-01-01) Yalçıntepe, Sinem; Gürkan, Hakan; Doğan, İpek Güngör; Demir, Selma; Sağ, Şebnem Özemri; Kabayeğit, Zehra Manav; Atlı, Emine İkbal; Atlı, Engin; Eker, Damla; Temel, Şehime Gülsün; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; 0000-0002-3948-8889; 0000-0002-9802-0880; AAH-8355-2021; AAG-8385-2021AIM: To investigate the genetic etiology of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN). MATERIAL and METHODS: We herein examined 55 non-related patients with a suspicion of CMT phenotype or HMSN using a customized multigene panel based on the next-generation sequencing technique. All cases were previously analyzed for PMP22 duplication with the Multiplex Ligand Probe Amplification (MLPA) method. RESULTS: In 13 cases (7.15%), we identified a pathogenic/likely pathogenic variant. The affected genes were MARS1, NDRG1, GJB1, GDAP1, MFN2, PRX, SH3TC2, and FGD4. In six cases (10.9%), novel variants were identified: pathogenic variants in GJB1 and FGD4 genes, variants of unknown significance (VUS) in HSPB3, CHRNA1, ARHGEF10, and KIF5A genes. In 21 cases (11.55%), VUS with the genes HSPB3, KIF1B, SCN11A, CHRNA1, HSPB1, FIG4, ARHGEF10, DHTKD1, SBF1, EGR2, SBF2, IGHMBP2, KIF5A, and DNAJB2 were identified. CONCLUSION: In this study, we had a 7.15% diagnosis rate with the NGS (Next Generation Sequencing) method in the CMT disease. Targeted next-generation sequencing panels are beneficial, time-saving, and cost-effective in the diagnosis of CMT.Publication Psychomotor delay in a child with fgfr3 g380r pathogenic mutation causing achondroplasia(Thieme Medical Publication, 2021-05-21) Ergoren, Mahmut C.; Manara, Elena; Paolacci, Stefano; Tulay, Pinar; Bertelli, Matteo; Mocan, Gamze; Eren, Erdal; EREN, ERDAL; Sag, Sebnem O.; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Sehime Gulsun; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; 0000-0001-9593-9325; 0000-0002-1684-1053; 0000-0002-1176-3359; 0000-0002-9552-221X; 0000-0002-9802-0880; AAZ-6885-2021; AAY-1413-2020; GQP-2509-2022; JPK-3909-2023; D-8491-2018Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 ( FGFR3 ) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G>A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.Publication CC2D1A as a novel ciliopathy gene(Springernature, 2020-12-01) Sakin, I.; Tuncel, G.; Kaplan, O. I.; Khokha, M. K.; Ergoren, M. C.; Deniz, E.; MarmaRare Grp; Sağ, S. Özemri; Temel, S. G.; TEMEL, ŞEHİME GÜLSÜN; ÖZEMRİ SAĞ, ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi; AAG-8385-2021; AAH-8355-2021