Person: ATA, PINAR
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PINAR
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Publication Open Access A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age(SPRINGER, 2020-07) DAĞÇINAR, ADNAN; Eltan, Mehmet; Alavanda, Ceren; Yavas Abali, Zehra; Ergenekon, Pinar; Yalindag Ozturk, Nilufer; Sakar, Mustafa; Dagcinar, Adnan; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Gokdemir, Yasemin; Elcioglu, Huriye Nursel; Guran, Tulay; Bereket, Abdullah; Ata, Pinar; Turan, SerapRaine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.Publication Metadata only The use of long-range pcr protocol in the diagnosis of friedreich ataxia(2020-11-22) ALAVANDA, CEREN; POLAT, HAMZA; SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., POLAT H., DEMİR Ş., ARSLAN ATEŞ E., SÖYLEMEZ M. A., GEÇKİNLİ B. B., ATA P., ARMAN A.Introduction: Friedreich ataxia(FRDA) is multisystemic disorder characterized by trinucleotide expansions in FXN gene. It’s one of the most common causes of autosomal recessive ataxia. Material/Method: Fragment analysis method was used to detect GAA triple nucleotide repeat expansions in the first intron of the FXN gene. Long-range PCR was performed with primers selected from both in intron and exon for confirmation in patients with more than two hundred repeats. Results: Fragment analysis was performed in 20 patients with FRDA pre-diagnosis. Long-range PCR was performed in 5 patients with more than 200 GAA repeats. After long-range PCR, the number of repetitions between 180 and 1450 was found in these patients. One allele of two siblings whose fragment analysis gave negative results was found to have an approximately 950 repeats. FXN gene sequence analysis was planned in order not to miss point mutations in patients with negative results. In order to provide appropriate genetic counseling to patients, segregation studies are continuing. Discussion: Although fragment analysis is reliable method in this disease, its reliability decreases when the number of repeats is high. Although Southern-blot method can be used for confirmation, long-range PCR protocols which are cheaper and easier, can also be applied.Publication Metadata only Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature(SPRINGER, 2021) BEREKET, ABDULLAH; Kaygusuz, Sare Betul; Alavanda, Ceren; Kirkgoz, Tarik; Eltan, Mehmet; Yavas Abali, Zehra; Helvacioglu, Didem; Guran, Tulay; Ata, Pinar; Bereket, Abdullah; Turan, SerapVitamin D-dependent rickets type IA (VDDR-IA) is caused by biallelic mutations in CYP27B1. Data regarding genotype-phenotype correlation in VDDR-IA are scarce. Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype correlation of reported cases in the literature. Thirteen patients with VDDR-IA were evaluated. Eight patients had reached their final height at the time of the study and, for whom, long-term outcome data were analyzed. Further, all VDDR-IA patients in the literature (n:183) were analyzed and clinical-genetic features were recorded. The median age of diagnosis was 2.55 +/- 1.13 (1.0-12) years. Initial diagnoses before referral to our clinic were nutritional rickets (n:7), hypophosphatemic rickets (n:2), and pseudohypoparathyroidism (n:1). All had biochemical evidence suggestive of VDDR-IA; except one with elevated 1,25(OH)(2)D3 and another with hyperphosphatemia, in whom pseudohypoparathyroidism was excluded with molecular tests. Combined analyses of our cohort and other series in the literature demonstrated that three most common CYP27B1 mutations are p.F443Pfs*24, c.195 + 2T > G, and p.V88Wfs*71. In Turkish population, p.K192E mutation along with the former two is the most common mutations. Comparison of clinical features demonstrated that c.195 + 2T > G mutation causes the most severe and p.K192E mutation causes the least severe phenotype with respect to age and height at presentation and calcitriol requirement. We found a clear genotype-phenotype correlation in VDDR-IA, notably CYP27B1 intronic c.195 + 2T > G mutation causes a more severe phenotype with lower height SDS at presentation and, higher calcitriol requirement, while less severe phenotype occurs in p.K192E mutation.Publication Metadata only Dermatologic Findings in Renal Transplant Recipients: Possible Effects of Immunosuppression Regimen and p53 Mutations(ELSEVIER SCIENCE INC, 2010) TURAN, KADİR; Serdar, Z. A.; Eren, P. A.; Canbakan, M.; Turan, K.; Tellioglu, G.; Gulle, S.; Ozgezer, T.; Kara, M.; Berber, I.; Titiz, M. I.Objective. To analyze the dermatologic lesions and possible effects of immunosuppression treatment and p53 gene mutations on dermatologic findings in renal transplant recipients. Materials and Methods. The study included 163 renal transplant recipients. After dermatologic examination, cultures, and histopathologic and genetic analyses were performed. A single-strand conformation polymorphism technique was used to analyze p53 gene mutations. Patients were categorized into 3 groups according to time since the transplantation procedure. Results were analyzed using the chi(2) test, using a software program (SPSS version 13.0; SPSS, Inc, Chicago, Illinois). Results. Mean (SD) age of the 163 transplant recipients (65 women and 98 men) was 40 (11) years, and posttransplantation follow-up was 65 (55) months. The most frequently observed drug-related lesion was hypertrichosis, in 46 of 150 patients. Of 115 lesions, the most commonly observed were verruca vulgaris (n = 34) from viruses, and pityriasis versicolor (n = 21) from superficial fungal infections. Of the total group, 20 patients (12.2%) were mutation carriers. Compared with the entire cohort, the group with premalignant lesions demonstrated more p53 mutations (11% vs 50%; P = .004). Patients given cyclosporine therapy exhibited more premalignant or malignant cutaneous lesions compared with patients who received other agents (P = .03). Conclusion. Patients carrying p53 mutations developed a malignant lesion in the late posttransplantation period, which suggests the importance of prediction of risk.Publication Metadata only A recurrent smad4 mutation causing familial myhre syndrome(2020-11-22) GEÇKİNLİ, BİLGEN BİLGE; ATA, PINAR; ARMAN, AHMET; DEMİR Ş., ARSLAN ATEŞ E., GEÇKİNLİ B. B., Aslanger A., ALAVANDA C., POLAT H., ATA P., ARMAN A.Publication Metadata only Cytotoxic Antibody Detection by Means of Flow-Cytometric Cross-Match(ELSEVIER SCIENCE INC, 2017) ATA, PINAR; Bilgen, T.; Ata, P.; Tozkir, J.; Tozkir, H.; Titiz, M. I.Background. Complement-dependent lymphocytotoxicity (CDC-XM) and flowcytometric (FCXM) cross-match are analyzed individually for each donor and recipient pair, because these techniques have fundamental differences for the evaluation of histocompatibility. Lately, cytotoxic flow-cytometric cross-match (cFCXM) has been developed as an alternative to both CDC-XM and FCXM techniques. We evaluated the limits of cFCXM with the use of different positive serum dilutions. Methods. CDC-XM, FCXM, and cFCXM tests were performed with the use of commercially available negative and positive serum samples and lymphocytes from healthy donors. Results. Complement-dependent cell death was successfully detected with the use of cFCXM. Complement-dependent cell death ratios in cFCXM were similar those in CDCXM. With cFCXM, not only complement-dependent cell death but also IgG binding could be detected within a single assay. At higher concentrations of the positive serum, IgG-fluorescein isothiocyanate (FITC) mean fluorescent intensity (MFI) values detected with the use of cFCXM were less than those of conventional FCXM. Correspondingly, for dead cells, MFI values of IgG-FITC were less than those of live cells in higher positive serum concentrations in the cFCXM assay. Moreover, our results demonstrated that in cFCXM analysis, the decreasing ratio of dead cells at increasing positive serum dilutions was not in parallel with the same decrease in IgG-FITC MFI values. Conclusions. The cFCXM technique detects complement-mediated cytotoxic cell death with the additional ability to show IgG binding in the same tube and therefore may reduce the necessary bench time and workload.Publication Metadata only The GABA(A) Receptor gamma 2 Subunit (R43Q) Mutation in Febrile Seizures(ELSEVIER SCIENCE INC, 2014) ATA, PINAR; Hancili, Suna; Onal, Zehra Esra; Ata, Pinar; Karatoprak, Elif Yuksel; Gurbuz, Tamay; Bostanci, Muharrem; Pacal, Yakup; Nuhoglu, Cagatay; Ceran, OmerBACKGROUND: Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the gamma 2-subunit N-terminal domain has been related to childhood absence epilepsy and febrile seizure. METHODS: We investigated R43Q mutations of the GABRG2 gene, located on the long arm of chromosome 5 encoding the gamma 2-subunit of the gamma-aminobutyric acid A receptor. We studied 44 patients with febrile seizure and 49 children without any febrile seizure who were admitted to our clinic. RESULTS: We found that 36% of our patient group, the children who experienced febrile convulsions, had heterozygous R43Q mutation. Statistical studies revealed that heterozygous R43Q mutation of gamma-aminobutyric acid A receptor gamma 2 subunit was higher in the study group than in the control group (P < 0.01). CONCLUSIONS: Heterozygous gamma-aminobutyric acid A receptor gamma 2 subunit (R43Q) mutation may have an effect in the development of febrile seizures.Publication Metadata only Yeni nesil dizileme analizi ıle saptanan gen/psödogen varyantlarının ayrıştırılmasında kullanışlı bir araç: Haplotip analizi(2021-11-28) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; ATA, PINAR; ARSLAN ATEŞ E., ALAVANDA C., POLAT H., Demir Ş., Dirimtekin E., Başer Z. M., Yıldırım Ö., SÖYLEMEZ M. A., GEÇKİNLİ B. B., ATA P., et al.Giriş: Lynch Sendromu, diğer adıyla Herediter Nonpolipozis Kolon Kanseri (HNPCC), kolorektal kanserler başta olmak üzere gastrointestinal sistem kanserleri, endometrium kanseri, meme kanseri gibi kanserlerle karşımıza çıkan kalıtımsal bir kanser yatkınlık sendromudur. Hatalı eşleşme tamir genlerindeki (MMR genleri: MLH1, MSH2, MSH6, PMS2 ve EPCAM) mutasyonlar Lynch Sendromuna neden olmaktadır. Olgu: Tarafımıza endometrium kanseri tanısı ile yönlendirilen 69 yaşında kadın olgu polikliniğimizde değerlendirildi. Olgunun 3 yıl önce kolon kanseri tanısı nedeniyle yapılan rutin takiplerinde endometrial kitle saptanması üzerine yapılan total abdominal histerektomi öyküsü mevcuttu. Pedigri analizinde kanser öyküsü bulunmayan hasta izole vaka olarak değerlendirildi. Patolojik değerlendirmesinde endometrial kanser tanısı alan hastanın tümör dokusunda yüksek mikrosatellit instabilitesi ve PMS2 ekspresyon kaybı saptandı, MLH1 hipermetilasyonu ve BRAF V600E mutasyonu saptanmadı. Periferik kandan DNA izolasyonu (QIAamp DNA Mini Kit, QIAGEN Germantown, MD USA) sonrası MLH1 ve PMS2 genleri Illumina MiSeq platformunda, HNPCC MASTR Plus (Multiplicom, Agilent,CA,USA) kiti kullanılarak yeni nesil dizi analizi yöntemiyle değerlendirildi. MLH1 geninde mutasyon saptanmayan olguda PMS2 geni ekzon 11’de heterozigot 47bç bir duplikasyon saptandı (c.1362_1407dup; p.Pro470Valfs*3). Mutasyon veri tabanlarında tanımlı değildi, çerçeve kaymasına yol açarak erken stop kodonuna sebep olması beklendiğinden patojenik bir varyant olarak değerlendirildi. Ancak pseödogen nedeniyle tahmin ettiğimiz gibi kopya sayı analizinde ekzon 11’in 4 kopya olduğu görünmekteydi. Amplikon değerlendirildiğinde bu bölgede PMS2CL ile PMS2 arasında kısmen düşük bir homoloji olduğu dikkat çekiciydi (%96). Farklı olan nükleotidlerin değerlendirilmesi ile yapılan haplotip analizinde insersiyonun olduğu okumaların tamamıyla PMS2 genine ait olduğu ortaya koyuldu. Sonuç: Psödogenler moleküler tanıyı zorlaştıran bir problem olarak karşımıza çıkmaktadır. Gen ile psödogenleri arasındaki minimal farklılıkları kullanarak saptanan mutasyonun gen veya psödogen üzerinde olduğunu belirlemek ek yöntemler gerektirmektedir. Bu durum tanıda gecikmelere yol açması ve ek olanaklar gerektirmesi bakımından klinik pratikte zorluklara yol açmaktadır. Bu çalışmada yeni nesil dizileme yönteminin tek bir DNA ipliğine ait diziyi ortaya koyma avantajı kullanılarak amplikondaki tek nükleotid varyasyonları (SNVs) analiz edilmiş ve amplikonun kopyalandığı DNA molekülünün tamamıyla PMS2 genine ait olduğu gösterilmiştir. Varyasyonun psödogene ait olduğundan şüphelenildiğinde amplikonun bilgi verici SNV’ler açısından değerlendirilmesi ek tetkik gereksinimini ortadan kaldırarak zaman kazandıracak ve gereksiz harcamaları da azaltacaktır.Publication Metadata only A New Biomarker on Bone Resorption in Chronic Otitis Media: Osteoprotegerin and NLRP3 Inflammasome Gene Polymorphisms(SPRINGER INDIA) ATA, PINAR; Keskin, Serhan; Tatlipinar, Arzu; Ata, PinarChronic Otitis Media (COM) is a chronic inflammation of the middle ear and mastoid with persistent membrane perforation and hearing loss. Osteoprotegerin (OPG) and NOD like receptor protein 3 (NLRP3) play an important role in bone metabolism. The aim of the study was to investigate the role of OPG and NLRP3 gene polymorphism on ossicular chain resorption in COM. Fourty COM patients and 20 healhty control group were included in the study. While 20 patients underwent ossiculoplasty, 20 patients underwent type 1 tympanoplasty. DNA was isolated from peripheral blood using the DNA kit. OPG gene c.226A > C (p.Thr76Pro) and NLRP3 gene c.592G > A (p. Val198Met) polymorphisms were genotyped using melting curve analysis technique. NLRP3 gene polymorphism were determined in 6 of 20 patients (30%) in ossiculoplasty group, 4 of 20 patients (20%) in type 1 tympanoplasty group and 3 of 20 patients (15%) in control group. OPG gene polymorphism were determined in 5 of 20 patients (25%) in ossiculoplasty group, 3 of 20 patients (15%) in type 1 tympanoplasty group and 1 of 20 patients (5%) in control group, respectively. There was no statistically significant difference between groups regarding to results. Although the difference was not significant NLRP3 and OPG gene polymorphisms were higher in the ossiculoplasty group. Since NLRP3 and OPG gene polymorphisms were determined to be higher numerically in the ossiculoplasty group, OPG and NLRP3 gene regulation system may have an effect on ossicular chain destruction in COM.Publication Metadata only Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation(KARGER, 2020) BEREKET, ABDULLAH; Gulcan-Kersin, Sinem; Kirkgoz, Tarik; Eltan, Mehmet; Rzayev, Turkay; Ata, Pinar; Bilgen, Hulya; Ozek, Eren; Bereket, Abdullah; Turan, SerapIntroduction: Neonatal severe hyperparathyroidism (NSHPT) is a rare cause of neonatal hypercalcemia caused by a loss of function mutation in the calcium-sensing receptor (CaSR). Hypercalcemia in NSHPT can be life-threatening. Maintenance of serum calcium within a safe range is the primary goal of treatment through hydration, forced diuresis, and bisphosphonate treatment, nevertheless most cases require parathyroidectomy. We report a case with NSHPT diagnosed on the first day of life (DoL) and successfully treated with cinacalcet as the first-line treatment from the 2nd DoL up to the age of 18 months. Case Report: A full-term baby evaluated for weight loss at postnatal 14th hour and found to have hypercalcemia (14.4 mg/dL, reference range [RR]: 8.0-11.3). Despite hydration and diuresis, hypercalcemia persisted. Further evaluation revealed a parathyroid hormone (PTH) level of 1,493 pg/mL (RR: 15-65) and urine Ca/Cr of 0.09 mg/mg (RR: 0.03-0.81). Cinacalcet treatment was initiated on the 2nd DoL with the diagnosis of NSHPT due to hypocalciuric hypercalcemia and elevated PTH level. Ca levels decreased to normal levels on the 7th DoL. She was discharged from hospital at postnatal day 15 on cinacalcet treatment and still continued at 18 months of age. Sequencing of CaSR revealed a novel homozygous c.1836G>A (p.G613E) mutation in the patient, for which the parents and sister were heterozygous. Conclusion: This case represents the youngest age at cinacalcet initiation and the longest duration without parathyroidectomy in a homozygous NSHPT and demonstrates that cinacalcet is an effective first-line treatment in patients who are responsive to this treatment modality and allows avoiding/delay in surgical intervention in NSHPT.