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Öğe A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28(Karger, 2025) Hazan, Filiz; Uzman, Ceren Yilmaz; Emecen, Durdugul Ayyildiz; Yilmazer, Murat Muhtar; Ozturk, Taylan; Bilen, Mertkan Mustafa; Ballar, PetekIntroduction: Cerebro-oculo-nasal syndrome (CONS) is characterized by ocular alterations ranging from anophthalmia/microphthalmia to normal eyes, structural anomalies of the central nervous system, and proboscis-like nares. This syndrome was first described more than 30 years ago, but only 21 patients have been reported to date. Case Presentation: In the present report, we present a 20-year-old CONS patient who exhibited anophthalmia, microphthalmia, cleft lip-palate, and proboscis-like nares. Exome sequencing (ES) analysis was performed for clinical diagnosis for the index case; her parents were evaluated with Sanger sequence analysis methods in terms of the variation detected in the index case. The ES analysis of the patient identified a novel heterozygous frameshift variant in the ZNF185 gene. This variant was not detected in her parents, whose biological relationship to the patient was confirmed through identity testing. According to the American College of Medical Genetics and Genomics (ACMG) criteria, this novel de novo variant was assessed as likely pathogenic. Peripheral blood mononuclear cells were isolated from peripheral blood of the patient and her parents. Protein was extracted and analyzed by Western blot using antibodies against ZNF185 and GAPDH as control. Western blot analysis detected an similar to 80 kDa protein in both the patient and her healthy parents. Additionally, extra bands (similar to 20-25 kDa) were observed in the patient using the anti-ZNF185 antibody. Conclusion: We aimed to evaluate all CONS patients based on their clinical features. Furthermore, we propose that the ZNF185 gene may play a role in the etiology of CONS.Öğe Association between vitamin D receptor gene FokI polymorphism and mortality in patients with sepsis(Springer, 2024) Bozgul, Sukriye Miray Kilincer; Emecen, Durdugul Ayyildiz; Akarca, Funda Karbek; Bozkurt, Devrim; Aydin, Ozgur; Koca, Didem; Can, OzgeBackground Sepsis is life-threatening organ dysfunction as a result of the host's dysregulated immune response to infection. The vitamin D receptor (VDR) gene FokI polymorphism influences immune cell behavior. In the present study, we aimed to investigate the association between VDR FokI polymorphism and mortality in sepsis and non-sepsis patients in the intensive care unit (ICU).Methods and results This is a prospective observational study involving 96 sepsis and 96 non-sepsis patients admitted to the Ege University ICU. VDR FokI polymorphisms were investigated, as well as the relationship between the identified polymorphisms and mortality. In-hospital mortality was 27.1% in the sepsis group and 8.33% in the non-sepsis group (p = 0.001). The frequencies of VDR FokI TT, TC, and CC genotypes were 8 (8.33%), 48 (50.0%), and 40 (41.7%) in the sepsis group, and 11 (11.5%), 42 (43.8%), and 43 (44.8%) in the non-sepsis group, respectively (p = 0.612). In the sepsis group, the frequencies of Fokl TT, TC, and CC genotypes did not differ significantly between survivors and non-survivors. However, homozygous C allele carriers had lower overall mortality (p = 0.047).Methods and results This is a prospective observational study involving 96 sepsis and 96 non-sepsis patients admitted to the Ege University ICU. VDR FokI polymorphisms were investigated, as well as the relationship between the identified polymorphisms and mortality. In-hospital mortality was 27.1% in the sepsis group and 8.33% in the non-sepsis group (p = 0.001). The frequencies of VDR FokI TT, TC, and CC genotypes were 8 (8.33%), 48 (50.0%), and 40 (41.7%) in the sepsis group, and 11 (11.5%), 42 (43.8%), and 43 (44.8%) in the non-sepsis group, respectively (p = 0.612). In the sepsis group, the frequencies of Fokl TT, TC, and CC genotypes did not differ significantly between survivors and non-survivors. However, homozygous C allele carriers had lower overall mortality (p = 0.047).Conclusion The VDR FokI polymorphism, particularly the CC genotype, appears to be associated with lower mortality in ICU patients.Öğe C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia(Elsevier, 2022) Isik, Esra; Emecen, Durdugul Ayyildiz; Atik, Tahir; Cogulu, Ozgur; Ozkinay, Ferda[No Abstract Available]Öğe C20orf24: a potential novel gene responsible for Cerebrofaciothoracic Dysplasia [2](Springernature, 2023) Isik, Esra; Emecen, Durdugul Ayyildiz; Atik, Tahir; Çoğulu, Özgür; Ozkinay, Ferda[No abstract available]Öğe CARD9 Mutations in Patients with Invasive Fungal Infections(Springer, 2025) Ozenen, Gizem Guner; Durmusalioglu, Enise Avci; Emecen, Durdugul Ayyildiz; Bilen, Nimet Melis; Umit, Zuhal; Cem, Ela; Bal, Zumrut SahbudakBackgroundHomozygous mutations in the Caspase-associated recruitment domain 9 (CARD9) gene increase susceptibility to invasive fungal infections, particularly those caused by Candida species. This study aims to assess the spectrum of CARD9 gene mutations that predispose individuals in the Turkish population, especially children, to invasive fungal infections.MethodsOur study included 30 patients who were admitted to Ege University due to invasive fungal infection or chronic mucocutaneous candidiasis between 2020 and 2023. Demographic and clinical data of the patients were recorded, and a sequence analysis of the CARD9 gene was performed.ResultsThe median age of the patients was 1.8 years (interquartile range [IQR]: 11.8). Diagnoses included fungal endocarditis (n = 8, 26.6%), chronic mucocutaneous candidiasis (n = 7,23.3%), central nervous system (CNS) infections (n = 6,20%), candidemia (n = 4,13.3%), fungus ball in the kidney (n = 2, 6.7%), endophthalmitis ( n = 1, 3.3%), concurrent CNS and intra-abdominal infection (n = 1, 3.3%), and concurrent CNS infection and endophthalmitis (n = 1, 3.3%). All 12 exons and exon-intron junctions of the CARD9 (NM_052813.5) gene that encodes the CARD9 protein were analyzed. A disease-causing variant was detected in 2 patients (6.6%). One patient had a Pseudallescheria boydii brain abscess, and the other had an invasive fungal infection confirmed histopathologically.ConclusionsAmong the 30 patients with invasive fungal infections, a disease-causing CARD9 mutation was identified in 2 (6.6%) patients. While CARD9 mutations are known to be associated with invasive candidiasis, this study reports the first pediatric case of P. boydii infection associated with a CARD9 mutation.Öğe Clinical and Molecular Heterogeneous Pathway Disorders: RASopathy Syndromes(Springernature, 2025) Tan, Turkan Turkut; Emecen, Durdugul Ayyildiz; Durmusalioglu, Enise Avci; Dogan, Yusuf Can; Yilmaz, Zehra Burcu; Kizilay, Deniz Ozalp; Isik, Esra[No abstract available]Öğe Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child(Karger, 2023) Eser, Hatice Ceren; Emecen, Durdugul Ayyildiz; Topyıldız, Ezgi; Işık, Esra; Edeer Karaca, Neslihan; Atık, Tahir; Aksu, GüzideIntroduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. Lipoid proteinosis is caused by pathogenic mutations in ECM1 gene and characterized by deposition of hyaline-like material in various tissues resulting in heterogenous clinical findings. Case Presentation: Four years after the diagnosis and management of THES, due to new clinical findings, another reason for underlying features of the patient was considered. WES was performed and a homozygous c.507delT (p.Arg171GlyfsTer7) mutation in the ECM1 gene was detected. Conclusion: This case provides an example of co-existence of multiple genetic defects in a single patient born to consanguineous parents.Öğe Genetic and Phenotypic Spectrum of MECP2 Duplication Syndrome: Case Studies of Three Male Patients(Springernature, 2025) Emecen, Durdugul Ayyildiz; Uzman, Ceren Yilmaz; Tan, Turkan Turkut; Isik, Esra; Pekuz, Serdar; Okur, Tuncay Derya; Cogulu, Ozgur[No abstract available]Öğe Homozygeous patogenic variants in the LTBP1 gene detected in two patients diagnosed with cutis laxa type, IIE(Springernature, 2024) Emecen, Durdugul Ayyildiz; Atik, Tahir; Avci Durmusalioglu, Enise; Isik, Esra; Acar, Sezer; Cogulu, Ozgur; Ozkinay, Ferda[Abstarct Not Available]Öğe Molecular spectrum of Von Willebrand Disease Type 3(Springernature, 2022) Isik, Esra; Emecen, Durdugul Ayyildiz; Kavakli, Kaan; Sahin, Fahri; Durmusalioglu, Enise Avci; Albayrak, Canan; Evim, Melike[No Abstract Available]Öğe A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism(Galenos Yayincilik, 2021) Durmaz, Asude; Aykut, Ayca; Atik, Tahir; Ozen, Samim; Emecen, Durdugul Ayyildiz; Ata, Aysun; Ozkinay, FerdaObjective: Carboxypeptidase E (CPE) plays a critical role in the biosynthesis of peptide hormones and neuropeptides in the endocrine system and central nervous system. CPE knockout mice models exhibit disorders such as diabetes, hyperproinsulinaemia, low bone mineral density and neurodevelopmental disorders. Only one patient is described with morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotropic hypogonadism, which was associated with a homozygous frameshift deletion in CPE. Methods: Herein are described three siblings with obesity, intellectual disability and hypogonadotropic hypogonadism. Whole exome sequencing (WES) was performed in the index case. Candidate variants were prioritised and segregation of the variant, consistent with the phenotype of the index case, was assessed by Sanger sequencing in affected siblings and parents. Results: WES analysis revealed a homozygous nonsense c.405C>A (p.Y135*) mutation in CPE. Validation and segregation analysis confirmed the homozygous mutation in the index case and his affected siblings. The parents were phenotypically normal heterozygous mutation carriers. Conclusion: This study provides additional evidence of the association between a homozygous nonsense mutation in CPE and a clinical phenotype consisting of obesity, intellectual disability and hypogonadotropic hypogonadism, which may be considered as a new monogenic obesity syndrome.Öğe Retinal detachment in a child with Frank-ter Haar syndrome(Taylor & Francis Inc, 2022) Furundaoturan, Onur; Baris, Mine Esen; Emecen, Durdugul Ayyildiz; Biler, Elif DemirkilincBackground To present a rare case of ocular involvement in a child with Frank-ter Haar syndrome (FTHS) presenting retinal detachment. Materials and Methods Detailed ophthalmological evaluation including examination under general anesthesia, ocular ultrasound, and visual evoked potential testing was completed. Photographic documentation of the physical findings was obtained. Results A 3-year-old female patient with FTHS was referred to evaluate for possible ophthalmic involvement. The patient presented with the classical dysmorphic abnormalities of the syndrome. Ophthalmologic evaluation revealed a high, against-the-rule corneal astigmatism in the right eye. In the left eye, the red reflex was absent with a suspicious membrane behind the lens, and a sensory exotropia was present. Ultrasonography confirmed retinal detachment with no history of previous trauma. Due to poor visual evoked potentials, no surgery was planned. Astigmatic refractive error was corrected with routine follow-up. Conclusions FTHS is associated with multiple ocular involvement such as megalocornea, congenital glaucoma, or colobomas. This case report is the first to describe a high, against-the-rule astigmatism and retinal detachment in a female child with FTHS and demonstrates that an early and detailed ophthalmological examination is essential for these patients.Öğe Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients(Wiley, 2026) Uzman, Ceren Yilmaz; Gursoy, Semra; Hazan, Filiz; Emecen, Durdugul Ayyildiz; Sanri, Aslihan; Atik, Tahir; Bozkaya, Ozlem GiraySotos syndrome is an overgrowth disorder caused by heterozygous NSD1 variants, partial-gene deletions, or 5q35 microdeletions. Malan syndrome, a phenotypically overlapping condition, results from haploinsufficiency of the NFIX gene due to either heterozygous chromosomal microdeletions involving the 19p13.2 region or heterozygous loss-of-function variants. This multicenter study aimed to characterize the clinical and molecular features of individuals with Sotos and Malan syndromes in T & uuml;rkiye. We retrospectively analyzed clinical and molecular data from 48 individuals with genetically confirmed Sotos or Malan syndrome across 14 centers. Molecular analyses included whole-exome sequencing, clinical exome sequencing, targeted gene panels, multiplex ligation-dependent probe amplification, and chromosomal microarray analysis. Forty-two individuals were diagnosed with Sotos syndrome and six with Malan syndrome. All exhibited characteristic facial features, and 97.9% had developmental delay or intellectual disability. We identified a total of 38 NSD1 variants, of which 35 were classified as pathogenic or likely pathogenic and three as variants of uncertain significance; notably, 23 of these variants were novel. Three patients carried 5q35 microdeletions, and one had an intragenic deletion involving exons 10-11. Four distinct NFIX variants (two novel) were detected in five patients, and one carried a 19p13.13 deletion encompassing the entire gene. This nationwide study expands the genotype-phenotype spectrum of Sotos and Malan syndromes in T & uuml;rkiye and supports improved diagnostic and clinical management strategies.Öğe The Clinical and Molecular Spectrum of Bardet-Biedl Syndrome: 18 Cases(Springernature, 2024) Tan, Turkan Turkut; Dogan, Yusuf; Avci Durmusalioglu, Enise; Emecen, Durdugul Ayyildiz; Isik, Esra; Cogulu, Ozgur; Atik, Tahir[Abstract Not Acaileble]Öğe The Clinical and Molecular Spectrum of BardetBiedl Syndrome: 18 Cases(Springernature, 2024) Tan, Turkan Turkut; Dogan, Yusuf; Durmusalioglu, Enise Avci; Emecen, Durdugul Ayyildiz; Isik, Esra; Cogulu, Ozgur; Atik, Tahir[Abstract Not Acaileble]Öğe The role of rapid whole exome sequencing in critically ill newborns with a preliminary diagnosis of genetic syndrome(Springernature, 2024) Emecen, Durdugul Ayyildiz; Isik, Esra; Durmusalioglu, Enise Avci; Yildirim, Aysegul; Terek, Demet; Koroglu, Ozge Altun; Yalaz, Mehmet[Abstract Not Acaileble]Öğe The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis(Walter De Gruyter Gmbh, 2021) Durmusalioglu, Enise Avci; Isik, Esra; Emecen, Durdugul Ayyildiz; Goksen, Damla; Ozen, Samim; Onay, Huseyin; Kose, MelisObjectives: Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping. Case presentation: A fifteen-year-old-boy with an initial diagnosis of osteogenesis imperfecta, was referred due to a number of atypical findings accompanying to osteoporosis such as splenomegaly and bicytopenia. A NGS panel (TruSight One Sequencing Panel) was performed and a novel homozygous mutation of c.257G>A (p.Gly86Glu) in the SLC7A7 gene (NM_001126106.2), responsible for LPI, was detected. The diagnosis was confirmed via reverse phenotyping. Conclusions: Reverse phenotyping using a multigene panel shortens the diagnostic process.Öğe The utility of reverse phenotyping: A case of lysinuric protein intolerance presented with childhood osteoporosis [Meeting Abstract](Springernature, 2022) Durmusalioglu, Enise Avci; Isik, Esra; Emecen, Durdugul Ayyildiz; Simsek, Damla Goksen; Ozen, Samim; Onay, Huseyin; Kose, Melis[No Abstract Available]
