Person: ATA, PINAR
Loading...
Email Address
Birth Date
Research Projects
Organizational Units
Job Title
Last Name
ATA
First Name
PINAR
Name
35 results
Search Results
Now showing 1 - 10 of 35
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 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 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 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.Publication Metadata only The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia(MARY ANN LIEBERT, INC, 2021) ALAVANDA, CEREN; Turkyilmaz, Ayberk; Kurnaz, Erdal; Alavanda, Ceren; Yarali, Oguzhan; Kartal Baykan, Emine; Yavuz, Dilek; Cayir, Atilla; Ata, PinarBackground: Monogenic hypercholesterolemia with Mendelian inheritance is a heterogeneous group of diseases that are characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C) levels, and the most common form of this disorder is autosomal-dominant familial hypercholesterolemia (FH). Methods: A total of 104 index cases with the clinical diagnosis of FH were included in this study. Low-density lipoprotein receptor (LDLR) was sequenced using the Sanger sequencing method. Results: Pathogenic/likely pathogenic variants were detected in LDLR in 55 of the 104 cases (mutation detection rate = 52.8%). Thirty different variants were detected in LDLR, three of which were novel. The total cholesterol and LDL-C values of the patients in the group of premature termination codon (PTC) mutation carriers were significantly higher than those of the patients in the group of non-PTC mutation carriers. A total of 87 patients (17 pediatric and 70 adult cases) were diagnosed with cascade genetic screening. Statin treatment was recommended to all 87 patients and was accepted and initiated in 70 of these patients. Conclusions: This study is the largest patient cohort that evaluated FH cases in the Turkish population. Herein, we revealed the LDLR mutation spectrum for a Turkish population and compared the cases in the context of genotype-phenotype correlation. Genetic screening of individuals with suspected FH not only helps to establish their diagnosis, but also facilitates early diagnosis and treatment initiation in other family members through cascade screening.Publication Metadata only A recurrent HPS1 gene mutation in a Hermansky-Pudlak patient with uncommon clinical presentation(2020-02-22) SÖYLEMEZ, MEHMET ALİ; GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ATA, PINAR; ARMAN, AHMET; ALAVANDA C., ARSLAN ATEŞ E., POLAT H., İlker A., Yıldırım Ö., SÖYLEMEZ M. A., GEÇKİNLİ B. B., GÜNEY A. İ., ATA P., ARMAN A.Publication Metadata only A patient with a novel homozygous CD55 gene mutation and its clinical presentation(2021-09-18) GEÇKİNLİ, BİLGEN BİLGE; GÜNEY, AHMET İLTER; ARMAN, AHMET; ATA, PINAR; UĞUZDOĞAN F., ALAVANDA C., POLAT H., Demir Ş., GEÇKİNLİ B. B., ARSLAN ATEŞ E., GÜNEY A. İ., ARMAN A., ATA P.Publication Metadata only Clinical spectrum of cubulin mutations(2022-11-01) ALPAY, HARİKA; DEMİRCİ BODUR, ECE; ALAVANDA, CEREN; YILDIZ, NURDAN; ATA, PINAR; GÖKCE, İBRAHİM; Cicek N., ALPAY H., Guven S., Turkkan O. N. , Polat S., DEMİRCİ BODUR E., ALAVANDA C., YILDIZ N., ATA P., GÖKCE İ.