Yazar "Ates, Kubra" seçeneğine göre listele

Listeleniyor 1 - 6 / 6
  • Küçük Resim Yok
    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, Ibrahim
    Introduction: 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.
  • Küçük Resim Yok
    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, Ibrahim
    Introduction: 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.
  • Küçük Resim Yok
    Öğe
    Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience
    (Erciyes Univ Sch Medicine, 2023) Deveci, Mehmet Fatih; Ates, Kubra; Alagoz, Meral; Tekedereli, Ibrahim; Gokce, Ismail Kursad; Aslan, Mehmet; Ozdemir, Ramazan
    Objective: Ichthyosis is a keratinization disorder that is characterized by a defective skin barrier and inability to retain water in the skin. Ichthyosis is extremely rare and mostly hereditary, and its manifestations typically involve dryness, scaling, and hyperkeratosis. Moreover, different clinical findings may be observed depending on the concomitant anomalies. Patients with ichthyosis should be protected from infection and hypernatremic dehydration during the neonatal period. After diagnosis, patients with ichthyosis should be screened for concomitant genetic disorders and their families should be referred to genetic counseling. Materials and Methods: In this study, ichthyosis cases observed in our neonatal intensive care unit were retrospectively evaluated. We analyzed the genetic analyses and demographic and clinical data of patients hospitalized in our unit over the past 9 years. Results: Three of the 24 patients evaluated expired during the neonatal period. Genetic analysis was performed on 10 patients, with 8 exhibiting a pathogenic variant. Four of these cases were diagnosed with syndromic ichthyosis, whereas four were nonsyndromic. Conclusion: Patients with ichthyosis need to be diagnosed early and subsequently screened for accompanying anomalies. In managing this disorder, genetic analysis and counseling are as important as proper skin care, hydration, and infection prevention and should not be overlooked.
  • Küçük Resim Yok
    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, Hatice
    Background 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.
  • Küçük Resim Yok
    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, Serdal
    Introduction: 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.
  • Küçük Resim Yok
    Öğe
    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, Busra
    Introduction: 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.