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Öğe Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele(2012) Karaca E.; Kalkan S.; Onay H.; Aykut A.; Coker M.; Özkınay F.Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9 % of the GD alleles. The N370S mutation had the highest prevalence (50 % ) followed by the L444P (35.5 % ) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.Öğe Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhood(Blackwell Publishing, 2014) Durmaz B.; Aykut A.; Hursitoglu G.; Bak M.; Serdaroglu E.; Onay H.; Özkınay F.Aim: Immune and inflammatory response activation is a common feature of systemic vasculitis. There is a protein called mannose binding lectin (MBL) that was reported to play an important role in innate immunity. MBL polymorphisms in the MBL gene cause predisposition to infectious and autoimmune diseases. There is no study in the literature investigating the association between MBL polymorphisms and Henoch-Schönlein purpura (HSP) to date. Therefore, the aim of this study is to determine the presence of any association between MBL gene variants and HSP in a child population. Method: Codon 54 polymorphism in exon 1 of the MBL gene was investigated by polymerase chain reaction - restriction fragment length polymorphism method in 100 children diagnosed as having HSP and 100 age-matched healthy controls. Results: The mutant B allele frequency was not significantly higher in the patient group (16%) compared to the control group (14%). AB genotype was found to be 28% and 26% in the patient group and healthy control group, respectively. AA genotype was found in 70% of the children with HSP and 73% of the healthy control group. Conclusion: These results suggest that codon 54 polymorphism in the MBL gene may hardly play a role in susceptibility to HSP in children, the first time this has been reported in the literature. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.Öğe Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: A novel finding in whole exome sequencing(Lippincott Williams and Wilkins, 2021) Cogulu O.; Mojarrab N.; Simsir O.S.; Durmaz A.; Aykut A.; Cogulu D.Gingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has been suggested. However, to date, no causative gene has been reported. Herein, we report a case presenting with the typical findings of this rare genetic syndrome. A homozygous c.1855C>T (p.Gln619Ter) mutation in the PTPN14 gene was identified. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.Öğe A cardio-facio-cutaneous syndrome case with tight achilles tendons(2012) Hazan F.; Aykut A.; Hizarcioglu M.; Tavli V.; Onay H.; Özkınay F.Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.Öğe A clinical evaluation of resin-based composite and glass ionomer cement restorations placed in primary teeth using the ART approach: Results at 24 months(American Dental Association, 2006) Ersin N.K.; Candan U.; Aykut A.; Önçag Ö.; Eronat C.; Kose T.Background. The authors evaluated the 24-month performance of a packable resin-based composite/dentin bonding system and a high-viscosity glass ionomer cement (GIC) in restorations placed in primary molars with the atraumatic restorative treatment (ART) approach. Methods. Three dentists placed 419 restorations in 219 children aged 6 through 10 years who had bilateral matched pairs of carious posterior Class I and II primary teeth. They used a split-mouth design to place the two materials, which were assigned randomly to contralateral sides. The authors evaluated the restorations according to U.S. Public Health Service Ryge criteria. Results. After 24 months, 96.7 percent of the Class I GIC restorations and 91 percent of the resin-based composite restorations survived, while the success rates for the Class II restorations were 76.1 percent and 82 percent for the GIC and resin-based composite restorations, respectively. The survival rate of the Class II resin-based composite restorations was 5.9 percent higher than that of the GIC restorations at the 24-month evaluation, but this difference was not statistically significant. However, the study results showed a statistically significant difference in survival rates between Class I and II restorations for both materials. Conclusion and Clinical Implications. The two-year clinical performance of both materials was satisfactory for the restoration of Class I and II primary molars using the ART approach.Öğe Demonstration of uniparental-isodisomy on chromosome 22q11.2 in a patient with childhood schizophrenia and facial dysmorphology by whole-genome analysis(2012) Cogulu O.; Pariltay E.; Durmaz A.A.; Aykut A.; Gunduz C.; Ozbaran B.; Aydin H.H.; Erermis S.; Aydin C.; Özkınay F.[No abstract available]Öğe Determination of fetal Rhesus D status by maternal plasma DNA analysis(Walter de Gruyter GmbH, 2013) Aykut A.; Onay H.; Sagol S.; Gunduz C.; Özkınay F.; Cogulu O.In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/ chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample )case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false- positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.Öğe Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice(Cell Press, 2019) Rashnonejad A.; Amini Chermahini G.; Gündüz C.; Onay H.; Aykut A.; Durmaz B.; Baka M.; Su Q.; Gao G.; Özkınay F.Symptoms of spinal muscular atrophy (SMA) disease typically begin in the late prenatal or the early postnatal period of life. The intrauterine (IU) correction of gene expression, fetal gene therapy, could offer effective gene therapy approach for early onset diseases. Hence, the overall goal of this study was to investigate the efficacy of human survival motor neuron (hSMN) gene expression after IU delivery in SMA mouse embryos. First, we found that IU-intracerebroventricular (i.c.v.) injection of adeno-associated virus serotype-9 (AAV9)-EGFP led to extensive expression of EGFP protein in different parts of the CNS with a great number of transduced neural stem cells. Then, to implement the fetal gene therapy, mouse fetuses received a single i.c.v. injection of a single-stranded (ss) or self-complementary (sc) AAV9-SMN vector that led to a lifespan of 93 (median of 63) or 171 (median 105) days for SMA mice. The muscle pathology and number of the motor neurons also improved in both study groups, with slightly better results coming from scAAV treatment. Consequently, fetal gene therapy may provide an alternative therapeutic approach for treating inherited diseases such as SMA that lead to prenatal death or lifelong irreversible damage. © 2019 The American Society of Gene and Cell TherapyRecent advances in prenatal screening tests combined with breakthroughs in gene delivery have paved the way for fetal gene therapy studies. In this issue of Molecular Therapy, Rashnonejad et al. investigated the ability of fetal gene therapy as an alternative approach for treating early-onset, lethal neurodegenerative disorders such as SMA. © 2019 The American Society of Gene and Cell TherapyÖğe Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies(2013) Cogulu O.; Pariltay E.; Koroglu O.A.; Aykut A.; Ozyurek R.; Levent E.; Kultursay N.; Özkınay F.Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR® Identifiler® PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.Öğe Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies(Editions Medecine et Hygiene, 2014) Pariltay E.; Durmaz A.; Durmaz B.; Aykut A.; Onay H.; Ak H.; Aydin H.H.; Özkınay F.; Cogulu O.New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10% of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb-6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.Öğe LSM1 is the new candidate gene for neurodevelopmental disorder(Elsevier Masson s.r.l., 2022) Kok Kilic G.; Isik E.; Alpay O.; Atik T.; Aykut A.; Durmaz A.; Cogulu O.Neurodevelopmental disorders are a heterogeneous group of diseases. Clinical presentation often overlaps with neurodevelopmental disorders, and explaining the molecular origin often requires reverse phenotyping. Next-Generation Sequencing (NGS) allows fast and cost-effective high-throughput sequencing. Given this fact, NGS is a useful tool for reverse phenotyping, especially for rare diseases. We hereby present two similarly affected siblings with neurodevelopmental delay. Duo-whole exome sequencing was performed. The homozygous LSM1 variant was found as the most likely cause for the condition. Our report contributes to the literature on the phenotype the biallelic LSM1 mutations. Moreover, we highlight the importance of reverse phenotyping and reanalysis of the genetic data. © 2022 Elsevier Masson SASÖğe Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis(2012) Kazandi M.; Turan V.; Demirtas G.S.; Akercan F.; Aykut A.; Özkınay F.Cystic fibrosis (CF) is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations p.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated.Öğe Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew- Minneapolis and Hb Hinsdale from Turkey(Maney Publishing, 2015) Aykut A.; Onay H.; Durmaz A.; Karaca E.; Vergin C.; Aydinok Y.; Özkınay F.Objectives: The Agean is one of the regions in Turkey where thalassemias and abnormal hemoglobins (Hbs) are prevalent. Combined heterozygosity of thalassemia mutations with a variety of structural Hb variants lead to an extremely wide spectrum of clinical and hematological phenotypes which is of importance for prenatal diagnosis. Methods: One hundred and seventeen patients and carriers diagnosed by hemoglobin electrophoresis (HPLC), at risk for abnormal hemoglobinopathies were screened for mutational analysis of the beta-globin gene. The full coding the 5' UTR, and the 3' UTR sequences of beta-globin gene (GenBank accession no. U01317) were amplified and sequenced. Results: In this study, a total of 118 (12.24%) structural Hb variant alleles were identified in 1341 mutated beta-chain alleles in Medical Genetics Department of Ege University between January 2006 and November 2013. Discussion: Here, we report the mutation spectrum of abnormal Hbs associated with the beta-globin gene in Aegean region of Turkey. Conclusion: In the present study, the Hb Hinsdale and Hb Andrew-Minneapolis variants are demonstrated for the first time in the Turkish population. © W. S. Maney & Son Ltd 2015.Öğe Molecular spectrum of ?-globin gene mutations in the Aegean region of Turkey: first observation of three ?-globin gene mutations in the Turkish population(Springer Tokyo, 2015) Onay H.; Aykut A.; Karaca E.; Durmaz A.; Solmaz A.E.; Çoğulu Ö.; Aydınok Y.; Vergin C.; Özkınay F.Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of ?-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of ?-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct ?-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were –?3.7 (52.28 %), –(?)20.5 (14.74 %), --MED (10.53 %), and ?PA-1? (8.77 %). Three ?-thalassemia mutations (?cd142?, --SEA, and ?IC?), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of ?-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches. © 2015, The Japanese Society of Hematology.Öğe Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney(2012) Aykut A.; Cogulu O.; Özkınay F.[No abstract available]Öğe No adverse effect to bonding following caries disinfection with chlorhexidine(2009) Ersin N.K.; Candan U.; Aykut A.; Eronat C.; Belli S.Purpose: The purpose of this study was to evaluate the effect of 2% chlorhexidine-based cavity disinfectant on the microtensile bond strength of 3 restorative materials to caries-affected and sound primary dentin. Methods: Eighteen exfoliated primary molars with occlusal caries and 18 sound primary molars were randomly divided into 3 experimental groups, according to the following restorative materials: (1) high-viscosity glass-ionomer cement (GIC; KetacMolar); (2) resin-modified GIC (Vitremer); and (3) dentin adhesive (Prime&Bond NT) with a packable composite (Surefil). The molars were further divided into 2 subgroups according to the application of chlorhexidine-based cavity disinfectant (Consepsis). Standard restoration blocks of 5 mm high were built up over the treated surfaces. Bond strength results were evaluated using by 1-way analysis of variance, and multiple comparisons were done via Tukey's test (P<.05). Results: No statistically significant differences were found between the high-viscosity and resin-modified GIC and composite showed the highest bond strength values on both dentin surfaces. The distribution of failure modes between the high-viscosity and resin-modified GICs were mostly cohesive where adhesive failures were noted significantly in the composite. Conclusion: Using 2% chlorhexidine gluconate did not interfere with the microtensile bond strength of glass ionomer cements and composite.Öğe A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant(Turkish National Pediatric Society, 2022) Deliloğlu B.; Tüfekçi Ö.; Tüzün F.; Aykut A.; Ceylan E.İ.; Durmaz A.; Yılmaz Ş.Background. Hereditary bone marrow failure syndromes are a category of biologically different syndromes that can cause cytopenia in at least one hematopoietic cell lineage. Case. We present a 29-week-old male infant who had a low Apgar Score, advanced delivery room resuscitation, widespread petechial rash, and ecchymoses at birth, without any dysmorphic features. Initial laboratory tests revealed bicytopenia (platelet count 7x10 3 /uL, hemoglobin of 3.9 g/dL, neutrophil 2.0x103 /uL) with findings of disseminated intravasculer coagulation (DIC). Imaging studies demonstrated accompanying left-sided congenital pulmonary airway malformation. On the second postnatal week pancytopenia occurred and the bone marrow findings were consistent with congenital amegakaryocytic thrombocytopenia. Further evaluations for differential diagnosis of pancitopenia were performed and the results of congenital viral infections, metabolic and immunologic tests were negative. While supportive treatments were in progress, haploidentical bone marrow transplantation (BMT) was performed from the father at 84th day due to unavailability of HLA-matched relative or nonrelative donor. Whole exome sequencing revealed a novel heterozygous frameshift variation (c.1242dupT [p. Thr538fs]) in exon 8 of the MECOM gene and validated by Sanger sequencing. No variation was detected in the parents genetic analysis. Conclusions. In this report, we present a patient with congenital bone marrow failure successfully treated with haploidentic BMT and describe a novel, de novo pathogenic variant in MECOM gene. © 2022, Turkish National Pediatric Society. All rights reserved.Öğe A novel mutation, IVS13 + 5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis(2013) Zeytinoglu M.; Aykut A.; Hazan F.; Torrente I.; Akay M.C.; Karapinar D.Y.; Vergin C.; Cogulu O.; Özkınay F.[No abstract available]Öğe Smith-Lemli-Opitz syndrome: A case report [Smith-Lemli-Opitz sendromu: Olgu sunumu](2013) Atik T.; Onay H.; Aykut A.; Çogulu O.; Özkınay F.Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple malformation and intellectual disability syndrome. SLOS is caused by DHCR7 mutations in the gene encoding for the delta 7 steroid reductase enzyme that converts 7-dehydrocholesterol to cholesterol. An 11-month-old boy was admitted to our clinic for failure to thrive, vomiting and ambiguous genitalia. SLOS was considered in the differential diagnosis due to clinical features and low serum cholesterol levels. Sequencing analysis of the DHCR7 gene showed a homozygous p.R352Q (c.1055 G>A) mutation in the patient. SLOS should be taken into consideration in cases with multiple congenital anomalies, ambiguous genitalia, and mental retardation combined with low cholesterol levels. © 2013 by Erciyes University School of Medicine.Öğe A twin sibling with prader-willi syndrome caused by uniparental disomy conceived after in vitro fertilization(Editions Medecine et Hygiene, 2015) Atik T.; Aykut A.; Karaca E.; Onay H.; Özkınay F.; Cogulu O.A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization: The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprinting defects as well. Although a number of imprinting syndromes have been reported to be related with ART, no case with uniparental disomy (UPD) caused Prader-Willi syndrome (PWS) [OMIM ID: 176270] has been reported in the literature. Here we present a dizygotic twin in which one of them was born with maternal UPD 15 following ART. The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet. Laboratory investigations revealed minimal dilatation in 3"1 and 4th ventricles and corpus callosum hypoplasia in magnetic resonance imaging, supravalvular pulmonary stenosis in echocardiography and pelvicaliectasia in the USG examinations. Methylation and microsatellite markers analyses showed maternal UPD for chromosome 15. Here we report, for the first time UPD caused PWS patient born after ART.
