Browsing by Author "Atik, T"

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    A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)
    Kutbay, NO; Yurekli, BS; Onay, H; Altay, CT; Atik, T; Hekimsoy, Z; Saygili, F; Akinci, B
    Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. Case report: Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c. 139G N A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement. Conclusion: Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutationsmay be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. (C) 2015 European Federation of Internal Medicine. Published by Elsevier B. V. All rights reserved.
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    E-CADHERIN GENE PROMOTER METHYLATION IN PEDIATRIC ASTHMA PATHOGENESIS AND CLINICS
    Zaraci, K; Ozkinay, F; Yilmaz, O; Atik, T; Basbay, Y; Isik, E; Yuksel, H
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    A novel candidate gene for neurodevelopmental disorders: JKAMP
    Durmusalioglu, EA; Isik, E; Polat, M; Canda, E; Atik, T
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    Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations
    Ozkinay, F; Isik, E; Simsek, DG; Aykut, A; Karaca, E; Ozen, S; Bolat, H; Atik, T; Saygili, F; Kartal, E; Gul, U; Anik, A; Tutunculer, F; Eren, E; Ozbek, MN; Bober, E; Abaci, A; Kirel, B; Ersoy, B; Buyukinan, M; Kara, C; Cakir, EP; Yildirim, R; Isguven, P; Dagdeviren, A; Agladioglu, SY; Dogan, M; Sangun, O; Arslanoglu, I; Korkmaz, HA; Temiz, F; Onay, H
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    Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations
    Aykut, A; Karaca, E; Onay, H; Göksen, D; Çetinkalp, S; Eren, E; Ersoy, B; Çakir, EP; Büyükinan, M; Kara, C; Anik, A; Kirel, B; Özen, S; Atik, T; Darcan, S; Özkinay, F
    Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.
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    Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis
    Isik, E; Aydinok, Y; Albayrak, C; Durmus, B; Karakas, Z; Orhan, MF; Sarper, N; Aydin, S; Unal, S; Oymak, Y; Karadas, N; Turedi, A; Albayrak, D; Tayfun, F; Tugcu, D; Karaman, S; Tobu, M; Unal, E; Ozcan, A; Unal, S; Aksu, T; Unuvar, A; Bilici, M; Azik, F; Ay, Y; Gelen, SA; Zengin, E; Albudak, E; Eker, I; Karakaya, T; Cogulu, O; Ozkinay, F; Atik, T
    ObjectivesIn congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.MethodsOne hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction.ResultsMolecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR.ConclusionsIn this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.