Yazar "Esener, Zeynep" seçeneğine göre listele
Listeleniyor 1 - 13 / 13
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review(Karger, 2025) Ates, Kubra; Ozturk, Murat; Esener, Zeynep; Sigirci, Ahmet; Tekedereli, IbrahimIntroduction: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare multisystemic congenital disorder caused by SON gene variants. This study aimed to present the results of whole exome sequencing, and describe some rare findings observed in the proband. Case Presentation: An 11-year-old boy exhibited hypotonia, poor growth, short stature, and microcephaly. The patient displayed various neurological symptoms, such as developmental delay, seizures, hydrocephalus, and brain abnormalities. He presented with strabismus, urinary problems, and facial dysmorphism. A history of stroke, obsession, insomnia, self-injurious behavior, and hearing loss was also noted. Based on the patient's clinical findings, whole exome sequencing was performed. A novel variant in the SON gene was identified. This variant was confirmed by Sanger sequencing. Notably, the parents tested normal for the variant. Conclusion: This study presents a patient who exhibited a wide range of behavioral abnormalities, stroke, and recurrent urolithiasis - features that are rarely reported in ZTTK syndrome - and includes a review of the literature.Öğe Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family(Lippincott Williams & Wilkins, 2019) Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; Esener, Zeynep; Camtosun, Emine; Akinci, AysehanFBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A>G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case.Öğe Chromosomal Microarray Analysis as a Diagnostic Tool in Congenital Heart Diseases(Karger, 2025) Esener, Zeynep; Ates, Kubra; Ozturk, Murat; Karakurt, Cemsit; Elkiran, Ozlem; Tekedereli, IbrahimIntroduction: Congenital heart diseases are a group of diseases present at birth, including anatomical and physiological abnormalities of the heart. They are the most common birth defects observed in the populations. The etiology is quite diverse. Although they mostly show a multifactorial inheritance pattern, chromosome abnormalities, copy number variations, single gene diseases, and environmental factors are involved in the etiology. Even though the etiology can be detected at a higher rate in syndromic cases, it has not been elucidated in most syndromic and non-syndromic cases. Our study aimed to detect copy number variations in syndromic and non-syndromic cases through chromosomal microarray analysis, to reveal the diagnostic value of the method, and to determine possible new loci. Methods: Patient files, photographs, and laboratory results of 85 cases (55 syndromic and 30 non-syndromic) who had congenital heart disease and chromosomal microarray analysis were retrospectively evaluated. The differences between the groups were analyzed with Chi-square and Mann-Whitney U tests. Results: Pathogenic/likely pathogenic copy number variations were detected in 32.7% (18/55) of the syndromic case group and 6.7% (2/30) of the non-syndromic case group. The diagnostic efficacy of chromosomal microarray analysis in the diagnosis and the age at the time of admission were statistically significant between groups. Conclusion: Our study suggest that the chromosomal microarray analysis is a valuable diagnostic tool to elucidate the etiology of congenital heart diseases.Öğe Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills(Tubitak Scientific & Technological Research Council Turkey, 2023) Guven Baysal, Senay; Arslan, Feyzullah Necati; Buyukavci, Mehmet Akif; Yagin, Fatma Hilal; Ekici, Cemal; Esener, Zeynep; Gumus Dogan, DeryaBackground/aim: Williams-Beuren syndrome (WBS) is a rare genetic disorder with delays in language and cognitive development, but, with increased awareness of clinical features and a reliable diagnostic test, WBS is becoming more widely recognized in childhood. Adaptive behavior skills and/or maladaptive behavior are important for the prognosis of individuals with WBS. The aim of this study was to investigate the clinical and developmental characteristics of patients with WBS and further increase awareness about it by evaluating the adaptive skills and maladaptive behaviors of the patients.Materials and methods: The data of WBS patients followed-up at the Developmental Behavioral Pediatrics Unit were reviewed. Patient data on perinatal and postnatal history, developmental stages, physical and neurological examination findings were collected. The International Guide for Monitoring Child Development (GMCD) was administered to each child. In addition, semistructured interviews were conducted with the parents using the Vineland Adaptive Behavior Scales, Second edition (Vineland-II).Results: A total of 12 patients diagnosed with WBS via detection of the 7q11.23 deletion, of whom 6 were girls, were retrospectively reviewed. The mean age at the time of review was 54.6 +/- 32.5 months. The mean age at first presentation to the Developmental Behavioral Pediatrics Outpatient Clinic was 15 +/- 11.5 months. In the first developmental evaluation using the GMCD, there was a delay in fine and gross motor domains in 6 patients, in the language domains in 4 patients, and in all of the domains in 2 patients. Findings with Vineland-II showed socialization and communication domains as strengths, but the daily living skills and motor skills domains were weaknesses. In terms of maladaptive behavior, the patients tended to frequently have behavioral problems, neurodevelopmental disease, anxiety disorders, eating problems, and sleeping problems.Conclusion: This retrospective review of 12 patients indicated a general delay in overall development, and confirmed impairment in both adaptive and maladaptive functioning in WBS.Öğe Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families(Springer, 2024) Ozturk, Murat; Ates, Kubra; Esener, Zeynep; Mutlu, Hatice; Aydogmus, Cigdem; Boztug, Kaan; Sarac, HaticeBackground Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. Methods and results In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. Conclusions We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.Öğe Exploring the Genetic Etiology of Pediatric Epilepsy: Insights from Targeted Next-Generation Sequence Analysis(Karger, 2025) Ozturk, Ozden; Ozturk, Murat; Ates, Kubra; Esener, Zeynep; Erguven, Naile Nisa; Ozgor, Bilge; Gungor, SerdalIntroduction: Epilepsy is a group of neurologic disorders with clinical and genetic heterogeneity. Epilepsy often affects children; thus, early diagnosis and precise treatment are vital to protecting the standard of life of a child. Progress in epilepsy-related gene discovery has caused enormous novelty in specific epilepsy diagnoses. Genetic testing using next-generation sequencing is now reachable, leading to higher diagnosis ratios and understanding of the disease's underlying mechanisms. The study's primary aim was to identify the genetic etiology based on targeted next-generation sequence analysis data and to calculate the diagnostic value of the epilepsy gene panel in the 0-17 age-group diagnosed with epilepsy. The secondary aim was to demonstrate the significance of periodic reinterpretation of variant of uncertain significance (VUS) variants and genotype-phenotype correlation. Methods: This retrospective study comprised 107 patients with epilepsy aged 8 months to 17 years, for whom a targeted gene panel covered 110 genes. VUS variants were reanalyzed, and genotype-phenotype correlation was performed. Results: In the initial evaluation, causal variants were described in 23 patients (21.5%). After reinterpretation of VUS, we detected causal variants in 30 out of 107 patients (28%). By reinterpreting the VUS and evaluating genotype-phenotype correlations, we enhanced our diagnostic value by 30.32%. After reinterpretation of VUS variants, the ACMG classification of 36 variants, including 15 benign (31%), 15 likely benign (31%), 5 likely pathogenic (10%), and 1 pathogenic (2%), were redefined. We most frequently detected causal variants in TSC2 (n = 5), GRIN2A (n = 4), and ALDH7A1 (n = 4) genes. Conclusion: The predictive value for epilepsy panel testing was 28% in the cohort. Our study revealed the importance of reanalysis of VUS variants and contributed to enriching the mutation spectrum in epilepsy.Öğe Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY(Galenos Publ House, 2025) Kayas, Leman; Akinci, Aysehan; Camtosun, Emine; Dundar, Ismail; Ciftci, Nurdan; Esener, Zeynep; Tekedereli, IbrahimObjective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterised by early-onset diabetes and inherited in an autosomal dominant manner. MODY results from heterozygous mutations in genes important for pancreatic beta-cell development or function. The objective was to identify the most common and rarest types of MODY amongst our cases with genetically confirmed MODY diagnosis, to evaluate clinical and laboratory features and treatment regimens. Methods: The epidemiological, auxological, and laboratory data, genetic analysis results and treatment regimens of patients diagnosed with MODY were retrospectively evaluated. Results: Of the 44 cases included, 27 (61.4%) were male and the median age at diagnosis was 10.07 (1-16.8) years. There was a family history of diabetes in 42 (95.5%) cases. The distribution of gene variants was: 25 (55.8%) glucokinase (GCK), 4 (9.1%) hepatocyte nuclear factor-4-alpha, 4 (9.1%) carboxyl ester lipase, 2 (4.5%) B lymphocyte kinase, 4 (9.1%) ATP-binding cassette subfamily C member 8, 2 (4.5%) Kruppel-like factor 11, 1 (2.3%) insulin (INS), 1 (2.3%) potassium channel, inwardly rectifying, subfamily J member 11, and 1 (2.3%) adaptor protein, phosphotyrosine interaction, pH domain, and leucine zipper containing 1. At presentation, 23 (52.3%) of the cases had incidental hyperglycemia while 14 (31.8%) had polyuria and polydipsia. Diabetic ketoacidosis was detected in 4 (9.1%) and ketonemia in 3 (6.9%). At least one of the diabetes autoantibodies (anti-glutamate acid decarboxylase, anti-islet cell antibodies, anti-insulin autoantibodies) was detected in 11 (25%) cases, of which 7/11 were islet antibodies, and 5 patients (11%) had two autoantibodies positive simultaneously. In terms of treatment, 26 (59%) received diet and lifestyle changes only, 18 (41%) received oral antidiabetic agents and/or insulin, and 6 (13.6%) received both oral antidiabetic agents and insulin. Conclusion: The most common type of MODY in our cohort was GCK-MODY. Although MODY is generally known as an autoantibodynegative type of diabetes, autoantibody positivity was detected in 11 of 44 cases (25%) in the present study.Öğe Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases(Wiley, 2026) Esener, Zeynep; Yuecesoy, Mehmet Akif; Gezdirici, Alper; Dogan, Mustafa; Turkyilmaz, Ayberk; Tekedereli, Ibrahim; Bas, HasanHypohidrotic ectodermal dysplasias are a genetic condition affecting ectoderm-derived structures such as hair, teeth, nails, and sweat glands, resulting from variations in the EDA, EDAR, EDARADD, and WNT10A genes. This study examined 32 cases from 25 unrelated families from T & uuml;rkiye, identifying seven novel variants in the EDA, EDAR, and WNT10A genes. The distribution of genetic alterations across the cohort revealed that 44% of the families (11/25) harbored variants in EDA, whereas EDAR and WNT10A variants were identified in 32% (8/25) and 24% (6/25) of families, respectively. Clinical evaluation revealed the characteristic hypohidrotic ectodermal dysplasia triad of hypotrichosis, hypodontia, and hypohidrosis was observed in 87.5% of cases, along with other symptoms such as dry skin, atopic dermatitis, and developmental delays. All cases presented with hair, eyebrow, and eyelash abnormalities, ranging in severity from subtle thinning to marked hypotrichosis. Among the cohort, one case exhibited severe atopic dermatitis as the predominant symptom. Targeted next-generation sequencing and clinical exome sequencing were employed to determine the genetic basis of the condition, emphasizing the importance of early diagnosis for targeted interventions. This study expands the genetic and phenotypic spectrum of hypohidrotic ectodermal dysplasia, presenting a comprehensive overview of molecular findings and genotype-phenotype correlations in the population from the Turkish population.Öğe Kardiyak anomalili olgularda kromozomal mikroarray yönteminin tanısal değerinin araştırılması(İnönü Üniversitesi, 2020) Esener, Zeynep; Tekedereli, İbrahimAmaç: Konjenital kalp hastalıkları kalbin anatomik ve fizyolojik anormalliklerini kapsayan, doğumda mevcut olan bir hastalık grubu olup toplumda gözlenen en sık doğumsal defekttir. Etiyolojisi oldukça çeşitlidir. Çoğunlukla multifaktöriyel kalıtım paterni göstermekle birlikte kromozom anomalileri, kopya sayısı değişiklikleri, tek gen hastalıkları, çevresel faktörler etiyolojide yer almaktadır. Etiyoloji sendromik olgularda daha yüksek oranda tespit edilebilmesine rağmen, sendromik ve sendomik olmayan olguların çoğunda aydınlatılamamıştır. Çalışmamızda, sendromik ve sendromik olmayan olgularda kopya sayısı değişikliklerinin mikroarray yöntemi ile tespit edilmesi, mikroarray yönteminin tanı amaçlı kullanımında iki grup arasındaki farklılıkların ortaya konması, bununla birlikte olası yeni lokusların belirlenmesi amaçlanmıştır. Gereç ve Yöntem: 2013-2019 yılları arasında İnönü Üniversitesi Tıp Fakültesi Tıbbi Genetik polikliniğinde konjenital kalp hastalığı nedeniyle değerlendirilen ve mikroarray çalışılan 55 sendromik, 30 sendromik olmayan toplamda 85 olguya ait dosyalar, fotoğraflar ve laboratuvar sonuçları retrospektif olarak incelendi. Gruplar arası farklılıkların tespitinde ki-kare ve Mann Whitney-U testleri kullanıldı. Bulgular: Mikroarray sonuçlarında, sendromik olgu grubunun %32,7'sinde (18/55), sendromik olmayan olgu grubunun %10'unda (3/30) kopya sayısı değişiklikleri saptandı. İki grup arasında mikroarray yönteminin tanıdaki yeri ve olgu başvuru yaşları arasında istatistiksel olarak anlamlı farklar bulundu. Sonuç: Olası kalp dışı organ sisteminin/sistemlerinin etkilenme riskinin tespit edilebilmesi, prognozun belirlenmesi, sonraki kuşaklar için risklerin ortaya konması, risk altındaki aile bireylerin belirlenebilmesi için konjenital kalp hastalıklarında genetik etiyolojinin aydınlatılması oldukça önemlidir. Çalışmamızda mikroarray yönteminin konjenital kalp hastalığı etiyolojisinin aydınlatılmasında oldukça önemli olduğu, özellikle sendromik olgularda karyotip analizi sonrasında çalışılması gerektiği sonucuna varılmıştır. Anahtar kelimeler: Konjenital kalp hastalığı, kopya sayısı değişiklikleri, mikroarrayÖğe Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants(Karger, 2025) Ates, Kubra; Ozturk, Murat; Esener, Zeynep; Dogan, Mustafa; Gezdirici, Alper; Sarac, Hatice; Yeninarcilar, BusraIntroduction: RASopathies are among the most prevalent genetic syndromes caused by variants in the Ras/MAPK signaling pathway, affecting various systems such as the heart, craniofacial features, skin, musculoskeletal system, hearing, and vision. They can also increase the risk of secondary malignancies. Despite clinical overlaps, distinguishing features are crucial for diagnosis, as different variants lead to distinct clinical implications. This study reviews the molecular and clinical characteristics of RASopathies, focusing on neurofibromatosis type 1 (NF1) and non-NF1 RASopathies. Methods: The study analyzed 76 patients referred to our outpatient clinic over a 6-year period, all of whom were clinically diagnosed with RASopathy and confirmed in most cases by molecular testing. Patient files, clinical photographs, and laboratory results were reviewed and analyzed. A targeted multigene next-generation sequencing panel test was performed, followed by Sanger sequencing for both confirmation and segregation analysis. Multiplex ligation-dependent probe amplification was conducted in a patient with normal sequence results but strong clinical suspicion, to identify potential deletions. Results: We identified 44 pathogenic, 25 likely pathogenic variants, and 6 variants of uncertain significance based on American College of Medical Genetics and Genomics (ACMG) criteria. Among these, 14 novel variants were found - 13 in the NF1 gene and one in SOS1. NF1 variants were present in 51 cases. Additional variants, likely to represent clinically significant findings, were identified in PTPN11 (n = 11), RAF1 (n = 4), SOS1 (n = 3), RIT1 (n = 3), KRAS (n = 1), NRAS (n = 1), SOS2 (n = 1), and BRAF (n = 1). Diagnoses included 49 patients with NF1, 21 with Noonan syndrome, 2 with neurofibromatosis-Noonan syndrome, 2 with Noonan syndrome with multiple lentigines, and 1 with cardiofaciocutaneous syndrome. Here, 12% of NF1 variants were located in exon 21, 36% of PTPN11 variants in exon 3, and 75% of RAF1 variants in exon 7. Conclusion: RASopathies have a broad molecular and clinical spectrum, complicating diagnosis and management. Accurate clinical correlation and molecular analysis are essential, as different RASopathy syndromes can result from variants in the same genes, while the same syndrome may arise from different genetic alterations. This study identifies novel variants and emphasizes the need for precise diagnostic approaches in these complex disorders.Öğe A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46, XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Stature(Karger, 2019) Ekici, Cemal; Esener, Zeynep; Korkmaz, Selcen; Salturk, Nihal; Yuksel, Sengul; Koc, AhmetIn this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45, X[20]/46, X, idic(Y)(p11.32)[29]/46, XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment. (C) 2018 S. Karger AG, BaselÖğe A rare mutation in the epg5 gene causes vici syndrome(Lıppıncott wıllıams & wılkıns, two commerce sq, 2001 market st, phıladelphıa, pa 19103 usa, 2018) Demiral, Emine; Sen, Askin; Esener, Zeynep; Ceylaner, Serdar; Tekedereli, IbrahimÖğe A rare mutation in the EPG5 gene causes Vici syndrome(Lippincott Williams & Wilkins, 2018) Demiral, Emine; Sen, Askin; Esener, Zeynep; Ceylaner, Serdar; Tekedereli, Ibrahim[Abstract Not Available]
