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Öğe 8q22.3 q24.23 duplication in a patient with oral frenulum and normal intellectual development(BIOMED CENTRAL LTD, 2017) Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Sezgin, Ilhan…Öğe A Negative Correlation Between MEFV Mutations and Allergic Diseases(Galenos Yayincilik, 2022) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Duksal, FatmaAim: Atopy is associated with a genetic predisposition to develop allergic diseases such as allergic rhinitis, asthma, and atopic dermatitis. In this study, we aimed to compare the prevalence of Familial Mediterranean Fever (FMF) mutations in asthma and allergic rhinitis patients with controls in the pediatric population and to analyse the positive or negative effect of MEFV mutations in the development of atopy. Materials and Methods: For the detection of FMF mutations, 88 pediatric patients (51 allergic asthma, 17 allergic rhinitis and 20 both asthma and allergic rhinitis cases) and 92 controls were included in our study. Total genomic DNA was extracted from peripheral blood samples using DNA isolation kit. Then, the patient and control groups were screened for MEFV gene mutations by Reverse Hybridization procedure (Strip Assay). Results: There were 9 carriers (heterozygous mutation) in the patient group. The control group had 21 carriers and 1 individual with a compound heterozygous mutation. It was not detected any homozygous mutation in both two groups. The number of individuals with mutation was statistically higher in the control group than in the patients of asthma and allergic rhinitis (p=0.015) and the mutation number (allelic frequency) in the control group was also higher than in the patients (p=0.014). Conclusion: We suggest that FMF mutations are less frequent in allergic rhinitis and asthma cases than in the normal population. Asthma and allergic rhinitis may be more common in individuals without FMF mutation. It can be thought that MEFV gene mutations are effective to prevent allergic reactions on the basis of T helper 2 (Th2) suppression.Öğe An Examination of Paraoxonase 1 Gene Polymorphism in Cases of Chronic Otitis Media(Dergipark Akad, 2020) Durmus, Kasim; Kurtulgan, Hande Kucuk; Bora, Adem; Yildirim, Malik Ejder; Altuntas, Emine ElifObjective: Chronic otitis media (COM) is a multifactorial disorder, the pathogenesis of which has yet to be fully elucidated. Numerous aetiological factors, including genetics, eustachian tube dysfunction, autoimmunity, infection, osteoclastic activity, cytokines, endotoxins, and products of lipid peroxidation resulting from oxidative stress, have been proposed to explain the chronic inflammation which lies at the heart of the disorder. The aim of this study is to investigate a possible relationship between the pathogenesis of COM and polymorphism within the paraoxonase 1 (PON1) gene. Methods: We investigated 49 patients admitted to the Otorhinolaryngology Department of Cumhuriyet University and diagnosed with COM between September and November 2017. The control group consisted of 51 healthy individuals. Polymerase chain reaction (PCR) - restriction fragment length polymorphism (RFLP) methods were used to genotype the PON1 Q192R (rs662) polymorphism. Results: When the case and control groups were compared in terms of the existence of PON1 (Q192) polymorphism, there was no statistically significant difference between the groups (p=0.166, p>0.05). When intergroup comparison was performed on the type of PON1 (Q192) polymorphism, there was also no statistically significant difference (p=0.261, p>0.05). Conclusion: The present study is the first known study in which PON1 polymorphism has been examined in cases of COM. The results of our study failed to indicate a statistically significant relationship between PON1 polymorphism and COM. However, it is important to note that the higher rate of 192RR polymorphism within the control group may indicate a protective effect in COM.Öğe Analysis of PKD1 and PKD2 Gene Mutations for Autosomal Dominant Polycystic Kidney Disease Cases in Turkish Population(Aves, 2020) Sezgin, Ilhan; Kayatas, Mansur; Kurtulgan, Hande Kucuk; Yildirim, Malik Ejder; Baser, Burak; Timucin, Meryem; Bagci, GokhanObjective: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common causes of end-stage renal disease, is a monogenic, multisystemic disease characterized by renal cysts and various extrarenal findings. ADPKD is caused by mutations in the polycystic kidney disease 1 (PKD1) (16p13.3) and PKD2 (4q22.1) genes. The genetic analysis of the PKD1 gene is complex because of its large size, the presence of 6 pseudogenes, and allelic heterogeneity. In this study, we aimed to identify the mutations of the PKD1 gene in patients with ADPKD in Sivas, Turkey. Materials and Methods: A total of 27 patients who were diagnosed with ADPKD were included in this study. Their mean age and body mass indices were determined. The gene variants were analyzed by targeted next-generation sequencing method. Results: In 17 (64.3%) of the 27 patients, the variants were detected in PKD1 and/or PKD2 genes. There were 13 patients (48.1%) with PKD1 gene variants and 5 (18.5%) with PKD2 gene variants. Of the 17 patients, 1 had both PKD1 and PKD2 gene variants. We observed that 16 patients with ADPKD (66.6%) had hypertension, and liver cysts were detected in 9 (33.3%) patients. Conclusion: PKD1 gene mutations were found in a significant number of patients with ADPKD, and hypertension is a frequently observed finding in them. In some patients, liver cysts may accompany the clinical picture of ADPKD. Our findings provide important insights for the genetic counseling of these patients.Öğe Angiotensin-Converting Enzyme (ACE) I/D and Alpha-Adducin (ADD1) G460W Gene Polymorphisms in Turkish Patients with Severe Chronic Tinnitus(AVES, 2016) Yuce, Salim; Sancakdar, Enver; Bagci, Gokhan; Koc, Sema; Kurtulgan, Hande Kucuk; Bagci, Binnur; Dogan, Mansur; Uysal, Ismail OnderOBJECTIVE: Tinnitus is described as a disturbing sound sensation in the absence of external stimulation. We aimed to investigate whether there is any relationship between severe chronic tinnitus and angiotensin-converting enzyme (ACE) I/D and alpha-adducin (ADD1) G460W gene polymorphisms. MATERIALS and METHODS: The patient group and control group consisted of 89 and 104 individuals, respectively. The evaluation of tinnitus was performed using the Strukturiertes Tinnitus-Interview (STI). The Tinnitus Handicap Inventory (THI) was used to evaluate the tinnitus severity. Polymerase chain reaction (PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques were used for genotyping. RESULTS: With regard to the ACE I/D polymorphism, there was no significant difference in genotype and allele frequencies between the patient group and control group. However, a statistically significant difference was found in genotype (p< 0.01) and allele frequencies (p= 0.021) of the ADD1 G460W gene polymorphism. Combined genotype analysis showed that the ACE II /ADD1 GW genotype was statistically significantly higher in the patient group than in the control group (X2: 7.15, p= 0.007). The odds ratio value of the GW genotype was 2.5 (95% CI= 1.4-4.7) (p< 0.01). CONCLUSION: Our results demonstrate an association between ADD1 G460W gene polymorphism and susceptibility to severe chronic tinnitus. It was found that the GW genotype increased the disease risk by 2.5-fold compared with other genotypes. This indicates that ADD1 G460W polymorphism could be an important factor in the pathophysiology of tinnitus.Öğe The Association of Plasminogen Activator Inhibitor Type 1 (PAI-1) Level and PAI-1 4G/5G Gene Polymorphism with the Formation and the Grade of Endometrial Cancer(SPRINGER/PLENUM PUBLISHERS, 2017) Yildirim, Malik Ejder; Karakus, Savas; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Ersan, Serpil; Bakir, SevtapPlasminogen activator inhibitor type 1 (PAI-1) is a serine protease inhibitor (Serpine 1), and it inhibits both tissue plasminogen activator and urokinase plasminogen activator which are important in fibrinolysis. We aimed to find whether there is a possible association between PAI-1 level, PAI-1 4G/5G polymorphism, and endometrial cancer. PAI-1 levels in peripheral blood were determined in 82 patients with endometrial carcinoma and 76 female healthy controls using an enzyme-linked immunoassay (ELISA). Then, the genomic DNA was extracted and screened by reverse hybridization procedure (Strip assay) to detect PAI 1 4G/5G polymorphism. The levels of PAI-1 in the patients were higher statistically in comparison to controls (P < 0.001). The distribution of PAI-1 4G/5G polymorphism was quite different between patients and controls (P = 0.008), and 4G allelic frequency was significantly higher in the patients of endometrial cancer than in controls (P = 0.026). We found significant difference between Grade 1 and Grade 2+3 patients in terms of the PAI-1 levels (P = 0.047). There was no association between PAI-1 4G/5G polymorphism and the grades of endometrial cancer (P = 0.993). Our data suggest that the level of PAI-1 and PAI-1 4G/5G gene polymorphism are effective in the formation of endometrial cancer. PAI-1 levels are also associated with the grades of endometrial cancer.Öğe Bcii-RFLP profiles for serum amiloid A1 and mutated MEFV gene prevalence in chronic renal failure patients requiring long-term hemodialysis(TAYLOR & FRANCIS LTD, 2015) Ozdemir, Ozturk; Kayatas, Mansur; Cetinkaya, Selma; Yildirim, Malik Ejder; Silan, Fatma; Kurtulgan, Hande Kucuk; Koksal, Binnur; Urfali, Mine; Candan, FerhanBackground and aim: There is an increased mortality risk in long-term hemodialysis patients of renal failure due to the chronic inflammation. The relationship between the chronic renal failure (CRF) and the role of familial genetic markers remains incompletely understood. In the current study, it was aimed to find out the prevalence of common MEFV gene mutations and BcII polymorphism in serum amyloid A1 (SAA1) gene in chronic renal patients (CRF) who require long-term hemodialysis. Method: Current cohort includes 242 CRF patients and 245 healthy individuals from the same population. Total genomic DNA was isolated from peripheral blood-EDTA samples and genotyping of target MEFV gene was carried out by reverse hybridization Strip Assay and real-time techniques. The SAA1 gene was genotyped by the BcII-RFLP method. Results: Increased mutated MEFV genotypes were found in current CRF patients when compared with the control group from the same ethnicity and the difference was statistically significant (Table 2) (OR: 4.9401, 95% CI: 3.0694-7.9509), p < 0.0001. The most frequent point mutations were M694V and E148Q. The mutated T allel frequency in the SAA1 gene was also different when compared with the healthy controls and the difference was found to be statistically significant (chi(2) : 13.18; p = 0.000). Conclusions: The current results indicate the germline mutations in both genetic biomarkers (MEFV and SAA1 genes) that are related to inflammation and amyloidosis processes may play a crucial role in CRF pathogenesis due to the long-term chronic inflammation.Öğe A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency(DERMAN MEDICAL PUBL, 2018) Yildirim, Malik Ejder; Vural, Ayse; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Baser, BurakWeill-Marchesani syndrome is an inherited connective tissue disorder. It is characterized by various ocular abnormalities and some skeletal problems. It is rarely seen in the world, but the clinical complications are significant and may require some interventions such as eye surgery, physical therapy or orthopedic procedures. Here we report on an eleven year old female with glaucoma, ectopia lentis, microspherophakia, brachydactyly and vitamin D deficiency from Sivas, Turkey. She was suffering from Weill-Marchesani syndrome with ADAMTS10 mutation.Öğe CCR2 Polymorphism in Chronic Renal Failure Patients Requiring Long-Term Hemodialysis(JAPAN SOC INTERNAL MEDICINE, 2011) Sezgin, Ilhan; Koksal, Binnur; Bagci, Gokhan; Kurtulgan, Hande Kucuk; Ozdemir, OzturkObjective A number of chemokines and chemokine receptors are produced by intrinsic renal cells as well as by infiltrating cells during renal inflammation. The CCR2 chemokine receptor mediates leukocyte chemoattraction in the initiation and amplification phase of renal inflammation. The polymorphism, CCR2-V64I, changes valine 64 of CCR2 to isoleucine. We aimed to determine the frequency of CCR2-V64I polymorphism in patients with chronic renal failure requiring long-term hemodialysis. Methods and Patients The PCR-based restriction fragment length polymorphism (PCR-RFLP) technique was used to assess the gene frequencies of CCR2-641 in CRF patients (n=210) and healthy controls (n=139) in the current study. Results The frequencies of the CCR2 genotype were 0.68 for V/V, 0.28 for V/I, and 0.4 for I/I in the CRF patients and 0.81 for V/V, 018 for V/I and 0.1 for I/I in healthy controls. The distribution of the CCR2-V64I mutant genotype was significantly different between subjects with CRF and healthy control subjects (X2=7.197 and p=0.027). Conclusion We found that the CCR2-V64I polymorphism was significantly high in CRF patients. In addition to the contribution to disease pathogenesis, it was recently found that chemokines have therapeutic importance in chronic renal failure. The frequency of CCR2-V64I and other chemokine and chemokine receptor polymorphisms in renal pathologies must be further investigated in larger study populations and in different renal diseases.Öğe The crucial role of mdr1 (ABCB1) gene polymorphisim in abdominal aortic aneurysm: preliminary results of a pilot study(SPRINGER, 2009) Kurtulgan, Hande Kucuk; Manduz, Sinasi; Uslu, Atilla; Kantarcioglu, Nurkay; Karahan, Oguz; Yildiz, Fazilet; Berkan, Ocal; Ozdemir, Oztuerk…Öğe Glutathione S-transferase polymorphisms and their role in recurrent pregnancy loss: A genetic risk assessment(Galenos Publ House, 2025) Akkus, Nejmiye; Kurtulgan, Hande KucukObjective: The frequency of recurrent pregnancy loss in society is 3-5%. Experts suggest that genetics account for over 80% of unexplained recurrent pregnancy loss. Glutathione S-transferase (GST) enzymes, regulated by GST genes, facilitate the detoxification of a variety of naturally occurring metabolites as well as environmentally derived chemicals. This research aimed to investigate GST gene polymorphisms as a potential risk factor in recurrent pregnancy loss etiology in the Turkish population. Materials and Methods: This study involved 107 recurrent pregnancy loss patients who sought treatment at the Sivas Cumhuriyet University Faculty of Medicine, Department of Medical Genetics, along with a control group of 107 individuals who had a successful birth and no previous history of miscarriage. The multiplex polymerase chain reaction and restriction fragment length polymorphism techniques were employed to analyze GSTM1, GSTT1 and GSTP1 gene polymorphisms in these cases. Results: GSTT1 null genotype (X2=4.74; p=0.029) and GSTT1/GSM1 null genotype (X2=3.333; p=0.047) were associated with statistically significant differences between the study groups. No statistical significance was detected when considering the GSTM1 null genotype (X2=3.326; p=0.068) or the GSTM1/GSTP1 and GSTT1/GSTP1 gene polymorphisms. Conclusion: A statistically significant association was observed between the GSTT1 null genotype and the diseased group. Our research demonstrated a substantial increase in the risk of recurrent pregnancy loss in the Turkish population, specifically among individuals with the GSTM1-null genotype. No statistical correlation was found between the GSTM1 and GSTP1 gene polymorphisms and recurrent pregnancy loss. Furthermore, no statistical significance was observed when they were assessed together.Öğe Heterozygous Deletion of Exon 8 in WFS1 Gene in Two Wolfram Syndrome Probands with Hearing Loss: Case Report(ORTADOGU AD PRES & PUBL CO, 2011) Altuntas, Emine Elif; Ozdemir, Ozturk; Bora, Adem; Koksal, Binnur; Kurtulgan, Hande Kucuk; Muderris, SuphiPoint mutations in the Wolfram syndrome 1 gene (WFS1) are attributed the autosomal dominant and/or recessive mild type sensorineural hearing loss in first degree relatives. Total genomic DNA was isolated from peripheral blood of affected probands and controls, Multiplex polymerase chain reaction was performed and followed by multiplex ligated probe amplification analysis. Sensorineural hearing loss was moderate in a 48-year-old male patient (case 1) and sensorineural hearing loss and optic atrophy were evident in his 16 year old daughter (case 2). We identified heterozygous deletion in exon 8 of WFS1 gene (Wolframin protein) in father and in one of his affected daughters with hearing loss and optic atrophy. The genetic results demonstrate the necessity of screening for the possible point mutation and/or larger deletions in WFS1 gene in cases with non-syndromic mild type sensorineural hearing loss. This study emphasizes the need for careful molecular evaluation in cases with impaired hearing, insulin-dependent diabetes mellitus and optic atrophy for the diagnosis of Wolfram syndrome. Proper genetic counseling must be given accordingly to patients and their other family members since it is important for their next generation.Öğe Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Mutation was Detected: A Case Report(TAYLOR & FRANCIS INC, 2018) Korgali, Elif Unver; Yavuz, Amine; Simsek, Cemile Ece Caglar; Guney, Cengiz; Kurtulgan, Hande Kucuk; Baser, Burak; Atalar, Mehmet Haydar; Ozer, Hatice; Egilmez, Hatice ReyhanIntroduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis. Case report. This female newborn with MMIHS had a c.532C > A /p.Arg178Ser heterozygous de novo mutation detected in the ACTG2 gene. Normal immature ganglion cells, normal calretinin punctate positivity, maintence of smooth muscle actin immunoreactivity, and decreased numbers of interstitial cells of Cajal(ICCs) were detected. Conclusion: This previously unreported c.532C >A /p.Arg178Ser heterozygous de novo mutation in the ACTG2 gene may lead to a severe form of MMIHS.Öğe Methylation profile of CD247 and FOXP3 genes and frequency of certain HLA-DQ haplotypes in Celiac disease(Elsevier Masson, Corp Off, 2025) Yildirim, Malik Ejder; Ataseven, Hilmi; Kurtulgan, Hande Kucuk; Tastemur, Seyma; Sirin, AhmetBackground: Celiac disease is an autoimmune disorder that affects the small intestine in people with gluten intolerance. HLA-DQ2 and DQ8 have been associated with Celiac Disease. CD247 is a subunit of the T cell receptor complex and Forkhead box P3 (FOXP3) is a transcription factor involved in the regulation of the immune response. Expression levels of these two markers in various diseases, including autoimmune disorders, are controversial. In this context, we aimed to shed light on the etiopathogenesis of Celiac disease by determining the methylation profile of CD247 and FOXP3 genes, and to calculate the frequency of HLA-DQ haplotypes in this disease. Methods: Methylated and unmethylated copy numbers of the CD247 and FOXP3 genes in samples were calculated using the methylation-specific qPCR method. The records regarding HLA-DQ2 and DQ8 genotypes previously detected from our patients by Real Time PCR and tissue transglutaminase IgA (TTG-IgA) by ELISA, were analyzed. Results: CD247 methylation rate in our patients was significantly lower than in controls. According to the Marsh classification, the methylation level in Marsh type 2-3 patients was statistically lower than in type 1. On the contrary, FOXP3 had a significantly higher methylation rate in the patient group compared to healthy controls, and this gene was also found to be more methylated in Marsh type 2-3 patients than in Marsh type 1. In the patient group, HLA-DQ2 positivity was 82.5% and HLA-DQ8 positivity was 37.5%. Conclusion: The data suggest that CD247 expression is upregulated, whereas FOXP3 expression is downregulated in Celiac disease. Among HLA haplotypes, HLA-DQ2 heterodimer came to the forefront with its frequency in terms of celiac predisposition.Öğe Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease(LIPPINCOTT WILLIAMS & WILKINS, 2019) Ustaoglu, Melih; Solmaz, Nilgun; Baser, Burak; Kurtulgan, Hande Kucuk; Onder, FeyzaPurpose: To present ocular findings and anterior segment-optical coherence tomography (AS-OCT) imaging findings of 2 cases of fish-eye disease (FED) involving 2 novel genetic variants of the lecithin-cholesterol acyltransferase (LCAT) gene. Methods: A case report. Results: A 46-year-old woman and 63-year-old man presented with blurred vision, burning sensation, and whitening of both eyes for 2 and 3 years, respectively. Ophthalmologic examination revealed slightly decreased visual acuity, yellowish-white diffuse corneal opacities causing corneal clouding, and dry eye disease bilaterally in both patients. AS-OCT imaging demonstrated diffuse hyperreflective corneal opacities predominantly located in the anterior stroma. On systemic examination, both patients had very low plasma high-density lipoprotein cholesterol levels. However, they did not have any systemic associations with familial LCAT deficiency or Tangier disease, which are differential diagnoses for corneal clouding and low plasma high-density lipoprotein cholesterol. Both patients were diagnosed with FED based on clinical findings. Furthermore, genetic analysis, in which novel variants of c.86A>G (p.Asn29Ser) in the first exon and c.1052A>G (p.Tyr351Cys) in the sixth exon on the LCAT gene were detected, confirmed the diagnosis. Conclusions: Although it is a rare genetic disorder, FED should be considered in the differential diagnosis of corneal clouding. Corneal lipid deposits, visible on AS-OCT are suggestive of FED, and genetic analysis can be used to confirm the clinical diagnosis. Finally, there may be a relationship between dry eye disease and LCAT enzyme deficiency disorders, which should be investigated in further studies.Öğe A possible interaction o TIMP-1 and TSP-1 with familial mediterranean fever(DERMAN MEDICAL PUBL, 2019) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Kilicgun, Hasan; Bakir, Deniz; Ersan, SepilAim: Matrix metalloproteinases (MMPs) may influence many biological and pathological processes including inflammatory responses. Thrombospondins (TSP) are a glycoprotein group of the extracellular matrix. In this study, we aimed to investigate a possible association of TIMP-1 (an inhibitor of metalloproteinases) and TSP-1 (an adhesive protein involved in cell-matrix interactions) with familial Mediterranean fever. Material and Method: Thirty FMF patients who had compound heterozygous or homozygous MEFV mutations and thirty healthy controls were included in this study. The patients were selected after screening by reverse hybridization procedure. TIMP-1 and TSP-1 levels of the patients and controls were measured by ELIZA. Results: TIMP-1 and TSP-1 levels of the patients who had homozygous or compound heterozygous MEFV mutation were compared with 30 healthy controls. The levels of TIMP-1 in the patients were statistically higher than those in the control group (p < 0.001). There was no significant difference between the patients and controls in terms of TSP-1 levels (p = 0.84). Discussion: IL-1 beta has an important role in FMF disease and it may stimulate expression of TIMP-1. TIMP-1 levels are increased in FMF patients on the basis of inflammation and higher TIMP-1 levels in patients may be associated with the self-limited nature of FMF. TSP-1 level can be modulated by proinflammatory cytokines but there was no any significant difference between TSP-1 levels of FMF patients and the control group in our study. It can be thought that there is no interaction between TSP-1 and the pathogenesis of FMF.Öğe Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey(SPRINGER/PLENUM PUBLISHERS, 2016) Huzmeli, Can; Candan, Ferhan; Alaygut, Demet; Bagci, Gokhan; Akkaya, Lale; Bagci, Binnur; Sozmen, Eser Yildirim; Kurtulgan, Hande Kucuk; Kayatas, MansurFabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G > T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF.Öğe Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers(SPRINGER, 2011) Ozdemir, Ozturk; Sezgin, Ilhan; Kurtulgan, Hande Kucuk; Candan, Ferhan; Koksal, Binnur; Sumer, Haldun; Icagasioglu, Dilara; Uslu, Atilla; Yildiz, Fazilet; Arslan, Sulhattin; Cetinkaya, Selma; Citli, Senol; Oztemur, Zekeriya; Kayatas, MansurThe Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.Öğe Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia(K Faisal Spec Hosp Res Centre, 2019) Yildirim, Malik Ejder; Kurtulgan, Hande Kucuk; Ozdemir, Ozturk; Kilicgun, Hasan; Aydemir, Didem S.; Baser, Burak; Sezgin, IlhanBACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with El 480, V726A and R761 H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group.Öğe Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion(BIOMED CENTRAL LTD, 2015) Kurtulgan, Hande Kucuk; Ozer, Leyla; Yildirim, Malik Ejder; Unsal, Evrim; Aktuna, Suleyman; Baltaci, Volkan; Akkus, Nejmiye; Sezgin, IlhanBackground: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. Case Presentation: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation. Conclusions: Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000bp)x3.
