Person: ARMAN, AHMET
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ARMAN
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AHMET
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Publication Metadata only Association between sporadic Parkinson disease and interleukin-1 beta-511 gene polymorphisms in the Turkish population(JOHN LIBBEY EUROTEXT LTD, 2010) ARMAN, AHMET; Arman, Ahmet; Isik, Nihal; Coker, Ajda; Candan, Fatma; Becit, Kezban Serap; List, Edward O.The pathogenesis of Parkinson Disease (PD) remains poorly understood; however, inflammation is thought to play an important role in disease progression. Recent reports suggest that IL-1, a major proinflammatory cytokine, might play a role in PD progression. The purpose of this study was to determine the relationship between IL-1 gene family polymorphisms [IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (-511, +3953)] and PD in the Turkish population. In this study, we examined the genotypes of IL-1 gene family polymorphisms in 365 individuals, of which 199 were healthy control subjects and 166 were PD patients. No significant differences were found in the genotype distribution or in the allele frequencies of IL-1 alpha (-889), IL-1Ra (VNTR) and IL-1 beta (+3953) between PD cases and control subjects. However, distribution of the IL-1 beta -511 2/2 (T/T) genotype was found to be significantly lower in PD patients than in healthy controls (p = 0.018, x(2): 8.242, OR: 2.211, 95% CI: 1.261-3.877). In addition, the IL-1 beta -511 allele 1 (C) frequency was significantly elevated in PD patients versus controls (p = 0.048, x(2): 3.87, OR: 1.178, 95% CI: 0.999-1.388). These results suggest that IL-1 alpha (-889), IL-1Ra and IL-1 beta (+3953) gene polymorphisms have no association with PD, while allele 1 (C) of IL-1 beta (-511) is associated with PD and may provide a susceptibility factor for this disease in the Turkish population. Furthermore, the 2/2 (T/T) genotype of IL-1 beta (-511) may protect individuals from PD.Publication Open Access Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features(SPRINGER, 2021-11-11) BEREKET, ABDULLAH; Eltan, Mehmet; Abali, Zehra Yavas; Turkyilmaz, Ayberk; Gokce, Ibrahim; Abali, Saygin; Alavanda, Ceren; Arman, Ahmet; Kirkgoz, Tarik; Guran, Tulay; Hatun, Sukru; Bereket, Abdullah; Turan, SerapBiallelic loss of function mutations in the CLDN16 gene cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and chronic kidney disease. Here we report two cases of FHHNC with diverse clinical presentations and hypercalcemia in one as a novel finding. Pt#1 initially presented with urinary tract infection and failure to thrive at 5.5 months of age to another center. Bilateral nephrocalcinosis, hypercalcemia (Ca: 12.2 mg/dl), elevated parathyroid hormone (PTH) level, and hypercalciuria were detected. Persistently elevated PTH with high/normal Ca levels led to subtotal-parathyroidectomy at the age of 2.5. However, PTH levels remained elevated with progressive deterioration in renal function. At 9-year-old, she was referred to us for evaluation of hyperparathyroidism and, hypomagnesemia together with hypercalciuria, elevated PTH with normal Ca levels, and medullary nephrocalcinosis were detected. Compound heterozygosity of CLDN16 variants (c.715G>A, p.G239R; and novel c.360C>A, p.C120*) confirmed the diagnosis. Pt#2 was a 10-month-old boy, admitted with irritability and urinary crystals. Hypocalcemia, hypophosphatemia, elevated PTH and ALP, low 25(OH)D levels, and radiographic findings of rickets were detected. However, additional findings of hypercalciuria and bilateral nephrocalcinosis were inconsistent with the nutritional rickets. Low/normal serum Mg levels suggested the diagnosis of FHHNC which was confirmed genetically as a homozygous missense (c.602G > A; p.G201E) variant in CLDN16. Yet, hypocalcemia and hypomagnesemia persisted in spite of treatment. In conclusion, FHHNC may present with diverse clinical features with mild hypomagnesemia leading to secondary hyperparathyroidism with changing Ca levels from low to high. Early and accurate clinical and molecular genetic diagnosis is important for proper management.Publication Open Access Türk Popülasyonu’nda Tümor Nekroz Faktör Alfa Gen Polimorfizmi (-376) ile Multipl Skleroz Arasındaki İlişki(2018-04-09) ARMAN, AHMET; Ahmet ARMAN;Hasan ŞİMŞEK;Merve SARIDALBu araştırmanın amacı Multipl Skleroz (MS) ile Tümor Nekroz Faktör-Alfa (TNF-A) geninin promotör bölgesindeki (-376) gen polimorfizmi arasındaki ilişkininin ortaya çıkarılmasıdır. Yapılan çalışmada 100 MS hastası ve 100 sağlıklı kontrol olmak üzere toplam 200 birey incelenmiştir. Bunun için ilk olarak kandan DNA izolasyonu yapılmış ve elde edilen DNA’lardan TNF-A geninin promoter – 376 bölgesi polimeraz zincir reaksiyonu yöntemi ile çoğaltılmıştır. İkinci aşamada ise elde edilen PCR ürünleri Tsp50 enzimi ile kesilerek genotip dağılımları ve allel frekansları incelenmiştir. Türk popülasyonunda MS hastalığı ile TNF-A – 376 polimorfizminin genotip dağılımı arasında kuvvetli bir ilişki bulunmuştur (p=0,010). Aynı zamanda TNF-A – 376 polimorfizminin allel frekansı MS hastalığıyla bir ilişki göstermektedir (p=0.011). Bu ilişkide TNF-A – 376 polimorfizminin heterozigot genotip G/A olduğu ve A allelinin koruyucu etkisi olduğu görülmüştür. TNF-A – 376 polimorfizmi ile MS arasında hastalığın risk oluşturması açısından herhangi bir ilişki bulunmamıştır ancak G/A genotipi ve A allelinin sağlıklı kişilerde koruyucu etkisi olabildiği düşünülmektedir.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 Hipoplastik aneminin nadir bir formu; ghosal hematodiafizer displazi(2021-11-28) GEÇKİNLİ, BİLGEN BİLGE; ARMAN, AHMET; POLAT H., GEÇKİNLİ B. B., ARSLAN ATEŞ E., ALAVANDA C., Demir Ş., Dirimtekin E., Başer Z. M., ARMAN A.Ghosal hematodiafizer displazi, uzun kemiklerin metadiafizyal displazisi ve kemik iliğinin fibrozisi veya sklerozuna bağlı inefektif hematopoez ile karakterize, nadir görülen otozomal resesif kalıtılan bir sendromdur. Endoplazmik retikulum membran proteini olan Tromboksan A Sentaz 1 enzimini kodlayan TBXAS1 genindeki mutasyonlar bu sendroma neden olmaktadır. Hastalarda görülen anemi ve kan tranfüzyonu ihtiyacı kortikosteroidler ile etkili şekilde tedavi edilebildiğinden diğer sklerozan kemik hastalıklarından ayırt edilmesi önemlidir. TBXAS1 geninde homozigot mutasyon saptanarak Ghosal Hematodiyafizer Displazi tanısı konulan hastanın klinik bulgularının genetik analiz sonuçları eşliğinde sunulması amaçlanmıştır. Periferik kandan DNA izolasyonu sonrası genomda kodlama yapan tüm gen bölgeleri Clinical Exome Sequencing (CES) kiti Agilent SureSelect V5 kullanılarak İllumina NextSeq Platformunda dizilenmiştir. Elde edilen veriler Sophia DDM veri analizi platformu aracılığı ile analiz edilmiştir. Saptanan mutasyon Sanger dizi analizi konfirme edilmiş ve aile bireylerinden segregasyon yapılmıştır. Tarafımıza yönlendirilen bir yaşında erkek hasta insidental saptanan hemoglobin ve trombosit düşüklüğü nedeniyle takibe alındı. Eritrosit replasman ihtiyacının olması üzerine kemik iliği aspirasyonu yapılan hastada normosellüler kemik iliği, normoblastik eritroid matürasyon, kesintisiz rölatif azalmış myelopoez ve nadir megakaryosit varlığı gözlendi. Periferik yaymada ise anizositoz, hipokromi, poikilositoz, polikromazi, yer yer şistozit ve gözyaşı hücreleri izlendi. Bu bulgulara eşlik eden displazi ve malign hücreler saptanmadı. Hastanın fizik muayenesi ve görüntülemelerinde hepatosplenomegali ve lenfadenopati saptanmadı. Hastada hemolitik aneminin eşlik edebileceği Atipik Hemolitik Üremik Sendrom, Konjenital Trombositopenik Purpura ve Proksismal Noktürnal Hemoglobinüri ön tanıları düşünüldü. Hastanın Tıbbi Genetik poliklinik değerlendirmesinde hemolitik anemiye eşlik eden kemik grafilerinde epifizyal diyafizyer düzensizlikler, kortikal hiperostozis ve mild mental retardasyon izlendi. Tanıya yönelik Yeni Nesil Dizileme (NGS) yöntemi ile klinik ekzom dizileme planlandı. Klinik ekzom dizilemede hemolitik anemi ile ilişkilendirilmiş genlerden kliniği açıklayabilecek bir varyasyon saptanmamış, TBXAS1 geninde homozigot c.1238 G>A p.(Arg413Gln) varyasyonu saptanmıştır. Literatürde steroid tedavisi sonrası aneminin gerilediği bildirildiğinden hastaya tedavi başlanmış olumlu yanıt alınmıştır. Ortak bulgularla seyreden farklı grup hastalıkların tanısında masif paralel dizileme teknolojileri hızlı tanı koymayı sağlamakta ve tedavi açısından yol gösterici olmaktadır. Bu çalışma TBXAS1 geninde saptanan novel varyasyon ile literatüre katkı sağlaması ve bir çok moleküler mekanizmayla ilişkili olabilecek hastalıklarda masif paralel dizilemenin önemini vurgulamak amacıyla sunulmaktadır. Anahtar Kelimeler: Ghosal hematodiafizer displazi, Hipoplastik anemi, TBXAS1Publication 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 Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant(2022-07-01) GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA, CEREN; ARMAN, AHMET; GEÇKİNLİ B. B., ALAVANDA C., Ates E. A., Yildirim O., ARMAN A.KBG syndrome (KBGS-OMIM:#148050) is a rare autosomal dominant disease characterized by short stature, intellectual disability, characteristic facies, skeletal anomalies and macrodontia that most commonly affect the permanent upper central incisors. In 2011, Sirmaci et al. (2011) identified heterozygous loss-of-function variants in the ANKRD11 gene on chromosome 16q24.3. So far, more than 150 patients have been reported in the literature. ANKRD11 gene encodes ankyrin repeat domain-containing protein 11 that regulates transcriptional activation (Zhang et al., 2004). Apart from single-nucleotide variations in the ANKRD11 gene, copy number variations on chromosome 16q24.3 can also cause KBG syndrome-like phenotype. In this study, we present a patient with de-novo novel missense variant in ANKRD11 gene. We have also identified skeletal bone enostosis as an additional finding, which is not previously reported.Publication Metadata only Novel splicing mutation in RAB3GAP1 Gene and microduplication of 3q29 in a patient withWarburg Micro syndrome(2020-11-22) GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA, CEREN; ARMAN, AHMET; GEÇKİNLİ B. B., TÜRKYILMAZ A., ALAVANDA C., SAĞER S. G., ARSLAN ATEŞ E., ARMAN A.Publication Open Access Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome(2023-04-01) ALAVANDA, CEREN; SÖYLEMEZ, MEHMET ALİ; ARMAN, AHMET; Geckinli B., TÜRKYILMAZ A., ALAVANDA C., Sager G., Arslan Ates E., SÖYLEMEZ M. A., ARMAN A.Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may affect any ocular segment including characteristic, small, atonic pupils. WARBM is known to be caused by biallelic, pathogenic variants in at least five genes although additional genetic loci may exist. The RAB3GAP1 c.748 + 1G>A, p.Asp250CysfsTer24 founder variant has been described in families of Turkish ancestry. We report the clinical and molecular findings in three, unrelated, Turkish families with WARBM. A novel c.974-2A>G variant causing WARBM in three siblings of Turkish descent was found. Functional studies of the novel, c.2606 + 1G>A variant in patients\" mRNA revealed skipping of exon 22 which results in a premature stop codon in exon 23. However, the clinical consequences of this variant are blended given that the individual also had a maternally inherited chromosome 3q29 microduplication.Publication Metadata only A Turkish family with hexanucleotide repeat expansion in C9orf72 gene(2020-11-22) GEÇKİNLİ, BİLGEN BİLGE; ARMAN, AHMET; POLAT H., ALAVANDA C., DEMİR Ş., ARSLAN ATEŞ E., GEÇKİNLİ B. B., ARMAN A.