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    Öğe
    Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study
    (Karger, 2023) Sanli, Zeynep Selcan; Anlas, Ozlem
    Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults and is caused by NOTCH3 variants. Clinical manifestations of CADASIL include recurrent ischemic strokes, dementia, migraine or migraineous headaches, epileptic seizures, and psychiatric disorders. The clinical-radiological phenotype of the disease is also highly variable. In this study, we investigated the variability of clinical, radiological, and genetic data in patients analyzed for NOTCH3 variant in our clinic. Methods: We performed clinical and neuropsychological examination, cerebral magnetic resonance imaging (MRI) and Doppler sonography of cerebral arteries in all patients. Next-generation sequencing test was used for detect variants in NOTCH3 gene from all CADASIL patients. Results: By using the next-generation sequencing method, heterozygous c.380C>T pathogenic variant was detected in the 4th exon of the NOTCH3 gene in 3 patients. This is a previously unreported novel variant and resulted in the replacement of the amino acid Proline at 127th position with Leucine. Discussion and Conclusion: The discovery of this novel pathogenic variant region may contribute to the expansion of the clinical and genetic spectrum of diseases associated with NOTCH3, leading to further research and treatment options for this disease in the future.
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    Öğe
    Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey
    (Karger, 2024) Anlas, Ozlem; Ozalp, Ozge; Cetinkunar, Suleyman
    Background: Obesity has become a common public health problem all over the world today. In recent years, studies on the genetic etiology of obesity have gained importance. As a result of these studies, 127 obesity-related loci have been identified. Objectives: The aim of this work was to screen obesity-related genes and review the literature. Methods: In this retrospective study, 41 obesity-related genes were screened in 116 patients by next-generation sequencing. These genes are DYRK1B, LEP, LEPR, MC4R, NR0B2, POMC, UCP3, ADRB2, ADRB3, AGRP, MC3R, NTRK2, PCSK1, SIM1, CARTPT, ENPP1, PPARG, PPARGC1B, PYY, SDC3, UCP1, ADIPOQ, PBEF (NAMP), ADN (CFD), RETN, PGC1 (PPARGC1A), CCK, NPY, GLUT4 (SLC2A4), ADD1, SREBP1 (SREBF1), PTP1B (PTPN1), IRS-1, GHRL, BDNF, NEGR1, SH2B1, GIPR, TMEM18, FTO, and SLC22A1. Results: Seventy-six of our patients were female, and 40 were male. As a result, 43 variants were detected in 39 (34.4%) patients. Of these, GHRL c.152G>A, MC4R c.496G>A, SH2B1 c.2083G>A, GIPR c.548G>A, ADIPOQ c.268G>A, and BDNF c.5C>T variants have been previously reported in the literature. In addition to the aforementioned variants, there are 37 novel variants that have not been previously reported. Among these, we classified the UCP3 c.126 + 1G>T variant as Pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria. Four of 37 novel variants, respectively, ADRB2 c.1160_1163delTTGT (p.Phe387Trp*55), MC4R c.895C>T (p.Pro299Ser), POMC c.304C>T (p.Gln102*), and NR0B2 c.265C>T (p.Gln89*), were classified as Likely Pathogenic. A total of 32 novel variants among 37 novel variants were categorized as variants of uncertain significance. Conclusions: Understanding the genetics of obesity is an essential step toward treating and preventing this disease, which has become a global health problem. With this study, we wanted to contribute to the literature by reporting previously reported and novel variants we detected in our patients with obesity.