Browsing by Author "Onay, H"

Now showing 1 - 14 of 14
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    Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
    Tanriverdi, S; Polat, M; Onay, H
    Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (CFTR) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the CFTR gene in neonates with respiratory distress. Newborn babies hospitalized due to respiratory distress were included in the patient group. The control group consisted of infants who had no respiratory distress. The CFTR genes of both groups were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A total of 40 patients (20 in the patient group and 20 in the control group) were evaluated. The CFTR gene analysis was normal in 16 neonates in the patient group, whereas in others: A46D (c.137C>A) (n = 1), D1312G (c.3935A>G) (n = 1), R117H (c.350G>A) (n = 1), S1426P (c.4276T>C) (n = 1) heterozygotes were detected; CFTR gene analysis was normal at 14 neonates in the control group, whereas in others: E1228G (c.3683A>G) (n = 1), E217G (c.650A>G) (n = 1), E632TfsX9 (c1894_1895delAG) (n = 1), I807M (c.2421 A>G) (n = 2), S573F (c.1718C>T) (n = 1) heterozygotes were detected. There was no significant difference in the patient and control groups' CFTR gene analysis (p = 0.340). This study demonstrates the importance of CFTR gene analysis in asymptomatic newborn infants for follow-up and early diagnosis of CFTR-related disorders. In this study, a c.1894_1895delAG (E632TfsX9) heterozygous mutation detected in the CFTR gene in an asymptomatic newborn infant, was first encountered in the literature.
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    Vitamin D receptor gene polymorphism in children with urinary tract infection
    Aslan, S; Akil, I; Aslan, G; Onay, H; Ozyurt, BC; Ozkinay, F
    It is known that small alterations leading to different vitamin D receptor (VDR) alleles affect resistance or susceptibility to infections. In this study, we examined VDR gene polymorphisms in urinary tract infections (UTI), which are common and an important cause of morbidity in children and subsequently of renal scar formation. We evaluated 92 patients diagnosed with UTI and 105 children without prior history of UTI as a control group. The VDR gene polymorphisms BsmI, FokI, ApaI, and TaqI were evaluated in patients and controls. BsmI polymorphism genotype distribution was similar between groups. There was a significant difference between groups for FokI (p = 0 < 001); for the ff genotype, the risk of UTI was significantly increased (p < 0.01) ,at 3.94 times higher (odds ratio = 3.94; 95% confidence interval 1.71-9.09). ApaI polymorphism was significantly increased in the control group (p < 0.01) and evaluated as a protective factor. Comparing the TaqI genotype between groups, there was no statistically significant difference, but in both Tt and tt genotypes, there was minimal increased risk of UTI. The results of this study suggest that VDR gene polymorphisms can be important for susceptibility to UTI and renal scar formation. Association between VDR polymorphisms and UTI is in accordance with the understanding of how vitamin D modulates the immune response against infections.
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    CONGENITAL ADRENAL HYPERPLASIA WITH COMPOUND HETEROZYGOUS I2 SPLICE AND P453S MUTATIONS
    Almacan, B; Ozdemir, N; Onay, H; Hekimsoy, Z
    Background. Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder caused by congenital deficiency of enzymes involved in cortisol biosynthesis from cholesterol in the adrenal cortex. In this article, we aimed to present a 29-year-old female patient with I2 splice point mutation detected in one allele and P453S mutation on the other allele of CYP21A2 gene associated with 21-hydroxylase deficiency. Her further investigation revealed that her mother had P453S mutation and her father had I2 splice mutation. Case report. A 29-year-old woman with CAH was admitted to our clinic with the request of pregnancy. Her physical examination revealed a height of 151 cm, weight 59 kg, body mass index 25.8 kg/m2. According to Tanner staging, she had Stage 3 breast development and pubic hair. Her laboratory test results were as follows: Glucose: 79 mg/dL (70-100 mg/dL), Creatinine: 0.6 (0.5-0.95 mg/ dL), Sodium: 138 mEq/L (135-145 mEq/L), Potassium: 4.4 mEq/L (3.5-5.1 mEq/L), Cortisol: 0.05 mu g/dL, ACTH: <5.00 pg/mL (5-46 pg/mL), 17-OH progesterone: 7.67 ng/mL (0-3 ng/mL). Chromosome analysis revealed a 46, XX karyotype. CYP21A2 gene mutation analysis was performed for the patient whose clinical history and laboratory results were compatible with congenital adrenal hyperplasia. During the reverse dot blot analysis, I2 splice mutation in one allele and P453S mutation in the other allele were detected. Conclusion. Although the I2 splice mutation detected in our case was mostly associated with a saltwasting form of CAH, it was thought that the other P453S mutation detected may explain the relatively good clinical course in our case.
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    Vitamin D receptor gene polymorphism in children with urinary tract infecion
    Akil, I; Aslan, S; Aslan, G; Onay, H; Ozyurt, B; Ozkinay, F
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    A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)
    Kutbay, NO; Yurekli, BS; Onay, H; Altay, CT; Atik, T; Hekimsoy, Z; Saygili, F; Akinci, B
    Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. Case report: Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c. 139G N A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement. Conclusion: Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutationsmay be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. (C) 2015 European Federation of Internal Medicine. Published by Elsevier B. V. All rights reserved.
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    Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar
    Akil, I; Ozkinay, F; Onay, H; Canda, E; Gumuser, G; Kavukcu, S
    The aim of this study was to evaluate the effect of the TLR-4 gene TLR4 c.896A
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    ADAM33, TLR-4 and CCR5Δ32 polymorphisms in children sensitized to same antigen displaying different phenotype
    Yuksel, H; Onay, H; Yilmaz, O; Sogut, A; Pehlivan, S; Kirmaz, C; Ozkinay, F
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    Successful management of delayed-onset adenosine deaminase deficiency with novel mutation
    Çelik, FÇ; Soyöz, Ö; Bölük, SÖ; Taskirdi, I; Haci, IA; Kaya, MS; Demir, A; Uzunoglu, B; Yildirim, AT; Onay, H; Gözmen, S; Gülez, N; Genel, F
    A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation.
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    Association of Helicobacter pylori-associated Duodenal Ulcer and Precancerous Findings with Toll-like Receptor-4 Asp299Gly and Toll- like Receptor-9123T/C Polymorphism and Cag-A, Vac-A in Children
    Tok, AC; Kasirga, HE; Gazi, H; Onay, H; Özkinay, F; Ayhan, S
    Objective: We aim to show whether endoscopic, histopathological and precancerous findings in childhood Helicobacter pylori (H. pylori) infection are associated with some changes in the host immune system and some virulence factors of the bacteria. For this purpose, we interpreted the changes in endoscopic and histopathological findings of TLR-4 and TLR-9 gene polymorphisms in the innate immune system of the host and cytotoxin associated gene A (Cag-A) and vacuolating cytotoxin A (Vac-A) positivity, the main virulence factors of the bacteria. Method: Between April 2009 and October 2010, 100 H. pylori-positive and 100 H. pylori-negative cases were cross-sectionally selected by retrospectively reviewing the files of patients admitted to a tertiary hospital with dyspepsia. After obtaining informed consent, blood samples from these patients were analysed for TLR-4 [Asp 299 Gly (rs4986790)] and TLR-9 [1237TC (rs574 3836)] gene polymorphisms and for the presence of Cag-A and Vac-A in isolates obtained from pathological specimens. Results: Poor socio-economic conditions were an important risk factor for H. pylori. The presence of Cag-A increased the likelihood of duodenal ulcer. There was no significant difference between TLR-4 [Asp 299 Gly (rs4986 790)] gene polymorphism and endoscopic and histopathological findings. However, TLR-9 [-1237TC (rs5743836)] polymorphism increased precancerous intestinal metaplasia and atrophy. Conclusion: The presence of Cag-A increases the risk of duodenal ulceration due to H. pylori infection. The TLR-9 [-1237TC (rs5743836)] polymorphism is associated with gastric atrophy and intestinal metaplasia in the pathogenesis of H. pylori infection. Studies in large groups of patients are needed.
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    Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations
    Ozkinay, F; Isik, E; Simsek, DG; Aykut, A; Karaca, E; Ozen, S; Bolat, H; Atik, T; Saygili, F; Kartal, E; Gul, U; Anik, A; Tutunculer, F; Eren, E; Ozbek, MN; Bober, E; Abaci, A; Kirel, B; Ersoy, B; Buyukinan, M; Kara, C; Cakir, EP; Yildirim, R; Isguven, P; Dagdeviren, A; Agladioglu, SY; Dogan, M; Sangun, O; Arslanoglu, I; Korkmaz, HA; Temiz, F; Onay, H
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    Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations
    Aykut, A; Karaca, E; Onay, H; Göksen, D; Çetinkalp, S; Eren, E; Ersoy, B; Çakir, EP; Büyükinan, M; Kara, C; Anik, A; Kirel, B; Özen, S; Atik, T; Darcan, S; Özkinay, F
    Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.
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    Epidemiological analysis of Leishmania tropica strains and giemsa-stained smears from Syrian and Turkish leishmaniasis patients using multilocus microsatellite typing (MLMT)
    Karakus, M; Nasereddin, A; Onay, H; Karaca, E; Özkeklikçi, A; Jaffe, CL; Kuhls, K; Özbilgin, A; Ertabaklar, H; Demir, S; Özbel, Y; Töz, S
    Turkey is located in an important geographical location, in terms of the epidemiology of vector- borne diseases, linking Asia and Europe. Cutaneous leishmaniasis (CL) is one of the endemic diseases in a Turkey and according to the Ministry Health of Turkey, 45% of CL patients originate from Sanliurfa province located in southeastern Turkey. Herein, the epidemiological status of CL, caused by L. tropica, in Turkey was examined using multilocus microsatellite typing (MLMT) of strains obtained from Turkish and Syrian patients. A total of 38 cryopreserved strains and 20 Giemsa-stained smears were included in the present study. MLMT was performed using 12 highly specific microsatellite markers. Delta K (Delta K) calculation and Bayesian statistics were used to determine the population structure. Three main populations (POP A, B and C) were identified and further examination revealed the presence of three subpopulations for POP B and C. Combined analysis was performed using the data of previously typed L. tropica strains and Mediterranean and Sanliurfa populations were identified. This finding suggests that the epidemiological status of L. tropica is more complicated than expected when compared to previous studies. A new population, comprised of Syrian L. tropica samples, was reported for the first time in Turkey, and the data presented here will provide new epidemiological information for further studies.
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    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Turkiye
    Oktay, V; Tüfekçioglu, O; Yilmaz, DÇ; Onrat, E; Karabulut, D; Çelik, M; Balcioglu, AS; Sucu, MM; Özdemir, G; Kaya, H; Kis, M; Güven, B; Bagdatoglu, O; Çaglar, FNT; Yüksel, UÇ; Düzen, IV; Barutçu, A; Simsir, ÖS; Basarici, I; Parspur, A; Dalgiç, O; Özlük, FÖA; Evlice, M; Sag, S; Deniz, MF; Öcal, A; Gazi, E; Sen, T; Özdabakoglu, O; Çakici, NB; Bakir, EO; Kunak, AÜ; Çayli, G; Tasdelen, AG; Aksit, E; Çil, SU; Onay, H
    Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Turkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.