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ARMAN, AHMET

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Author: GEÇKİNLİ, BİLGEN BİLGE × Subject: Health Sciences ×

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Now showing 1 - 4 of 4
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    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.
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    PublicationOpen Access
    Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
    (2022-06-01) ARMAN, AHMET; GEÇKİNLİ, BİLGEN BİLGE; DÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., ARTAN S., Cora T., ŞAHİN F. İ., DURSUN A., et al.
    Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
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    Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf-Yang syndrome
    (2023-01-01) ALAVANDA, CEREN; GEÇKİNLİ, BİLGEN BİLGE; DEMİRCİOĞLU, SERAP; ARMAN, AHMET; ALAVANDA C., Arslan Ateş E., Yavaş Abalı Z., GEÇKİNLİ B. B., DEMİRCİOĞLU S., ARMAN A.
    Schaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi Syndrome, joint contractures, and ASD were more commonly detected in in this syndrome. Recently, it was shown that truncating variants in the paternal allele of the MAGEL2 gene cause SHFYNG. Here, we present two patients diagnosed with SHFYNG syndrome having two different novel truncating variants in the MAGEL2 gene, one paternally inherited and one de novo. One patient had obesity, brachydactyly and dysmorphic features, and the other patient presented with contractures, severe hypotonia and early death. This is the first report of Turkish SHFYNG syndrome cases presented to emphasize the phenotypic diversity of the syndrome.
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    Konjenital kalp hastalığının Nkx2-5 gen varyantları ile ilişkisi
    (2022-11-13) GEÇKİNLİ, BİLGEN BİLGE; AKALIN, FİGEN; ARMAN, AHMET; Geçkinli B. B., Demir Ş., Girgin Özgümüş G., Türkyılmaz A., Akalın F., Arman A.
    Konjenital kalp hastalığı (KKH), doğumsal anomalilerin en sık görülen şeklidir. Yenidoğanda yaklaşık %1 sıklıktadır ve doğumsal anomaliler içinde çocuk ölümlerinin en sık sebebidir. KKH etyolojisi çoğu vakada tam belirlenememiştir. Embriyogenezde anormal kalp gelişimindeki biyolojik süreç heterojen ve komplekstir, hem çevresel ve hem de genetik risk faktörlerini içerdiği düşünülmektedir. Bu çalışmada KKHda moleküler etiyolojiyi aydınlatmak için NKX2- 5 genindeki varyantların DNA dizi analizi ile saptanması hedeflenmiştir. Çalışmamızda KKH tanısı alan 80 hasta ve 50 kontrol grubu incelenmiştir. Kromozom anomalisi, Digeorge sendromu ve multipl konjenital anomalileri olan hastalar dahil edilmemiştir. Hastalarda ventriküler septal defekt (VSD) %23, atrial septal defekt (ASD) %20, Fallot tetralojisi (TOF) %11, atrioventriküler septal defekt, pulmoner atrezi ve aort quarktasyonu %10 oranında mevcuttu. Sırasıyla ASD ve patent foramen ovale saptanan hastalarda missense tanımlı heterozigot p.C270Y ve p.R161P varyantları saptandı. p.C270Y olası benign, VUS (Variant of unknown significance) ve p.R161P KKH’nın eşlik edebileceği konjenital hipotiroidi ile ilişkili patojenik varyant olarak tanımlıdır. Segregasyon analizi için yapılan ebeveyn taramasında taşıyıcılık saptanmıştır. Türk toplumunda KKH patogenezinde varyantların saptanması, dünya çapında bu zamana kadar tespit edilen varyantlar ile kıyaslanması ile etnik kökene göre varyant farklılığının etkisi belirlenebilecektir. Böylelikle KKH tedavisine yönelik çalışmaların ilerlemesine katkı sağlanarak morbidite ve mortalite azalacaktır. Bu çalışma Marmara Üniversitesi, Bilimsel Araştırma Projeleri Birimi tarafından desteklenmiştir. Proje Kodu: SAG-B -070317- 0085 Anahtar Kelimeler: Konjenital kalp hastalığı, NKX2-5 geni, kardiyak transkripsiyon faktörü