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    Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene
    (Wiley, 2023) Turan, Betul; Goktas, Emine; Sonmez, F. Mujgan; Aydin, Halil Ibrahim; Aydogdu, Demet; Zamani, Ayse Gul; Yildirim, Mahmut Selman
    Cerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12-year-old manifesting intellectual disability (ID), seizures, expressive dysphasia and autism-like behavior. Urinary Cr metabolite measurements and MRI-spectroscopy (MRS) findings were consistent with CCDS. Molecular analysis revealed de novo hemizygous SLC6A8 (NM_005629.4): c.1400 T > G (p.Met467Arg) variant. The variant was not found in ClinVar, (the date of access: April 23th, 2023) and population databases (ExAC, gnomAD, 1000 Genomes, ESP 6500, Turkish Variome, GenomeAsia, Iranome, GME Variome, TOPMed Bravo and 4.7KJPN), it alters the physicochemical properties of the amino acid, the region is moderately conserved across species and in-silico prediction tools (REVEL, CADD, SIFT, PolyPhen2, Mutation Taster, MetaLR, MCAP, MetaRNN and MutPred) unanimously emphasize pathogenicity. Based on this evidence, the variant was interpreted as likely pathogenic according to the ACMG criteria (PS2, PM2,PP3, and PP4-S). This report may further elucidate the nature and phenotypic consequences of SLC6A8 variants.
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    A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma
    (Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut Selman
    Chromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.
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    A Special Chromosome Imbalance Jumping translocation of 1q in Burkitt Lymphoma
    (Gazi Univ, Fac Med, 2022) Turan, Betul; Goktas, Emine; Zamani, Ayse Gul; Tokgoz, Huseyin; Yildirim, Mahmut Selman
    Chromosome 1q gain that confers clonal expansion advantage to tumor cells has been reported in many solid tissue and hematological cancers, in many different forms; sometimes as a derivative chromosome, as isochromosome, or less frequently, due to an imbalance created by a jumping translocation. Although it is known that chromosome 1q gain provide the advantage of clonal expansion to the tumor cells and is relatively common in Burkitt lymphoma/leukemia, its detection in the form of jumping translocation is extraordinarily rare and results of JT containing 1q are controversial. Bone marrow cytogenetic examination performed on a case diagnosed with stage 4 Burkitt lymphoma/leukemia resulted in 46,XY,dup(1)(q21q42),t(8;14)(q24;q32)[5]/46,XY,der(6)t(1;6)(q21;q27),t(8;14)(q 24;q32)[4]/46,XY,t(8;14)(q24;q32), der(11)t(1;11)(q21;q23 )[2]/46,XY[3]. We present the clinical features of the case that was found to have 1q gain in the jumping translocation form to contribute to the literature.
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    An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome
    (Erciyes Univ Sch Medicine, 2023) Goktas, Emine; Altindas, Betul Okur; Tarim, Hulya; Kayhan, Gulsum; Zamani, Ayse Gul; Yildirim, Mahmut Selman
    Background: Prader-Willi Syndrome (PWS) is a multisystemic disorder characterized by dysmorphic facies, hypotonia, developmental delay, cognitive impairment, hypogonadism, and obesity. It is caused by the absence of expression of paternally derived genes on chromosome 15. Here, we report the diagnostic journey of a case with severe neonatal hypotonia.Case Report: A neonatal patient was referred for the prediagnosis of spinal muscular atrophy (SMA). During the SMA Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, a diminished signal of a reference probe on the 15q11.2 was revealed. Later, it was confirmed that she had a deletion confined to 15q11.2-q13.1, with a methylation pattern compatible with PWS.Conclusion: Since hypotonia might be the only finding in newborns with PWS, this case was presented to emphasize the importance of a comprehensive approach to such patients.
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    An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome
    (Erciyes Univ Sch Medicine, 2023) Goktas, Emine; Altindas, Betul Okur; Tarim, Hulya; Kayhan, Gulsum; Zamani, Ayse Gul; Yildirim, Mahmut Selman
    Background: Prader-Willi Syndrome (PWS) is a multisystemic disorder characterized by dysmorphic facies, hypotonia, developmental delay, cognitive impairment, hypogonadism, and obesity. It is caused by the absence of expression of paternally derived genes on chromosome 15. Here, we report the diagnostic journey of a case with severe neonatal hypotonia.Case Report: A neonatal patient was referred for the prediagnosis of spinal muscular atrophy (SMA). During the SMA Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, a diminished signal of a reference probe on the 15q11.2 was revealed. Later, it was confirmed that she had a deletion confined to 15q11.2-q13.1, with a methylation pattern compatible with PWS.Conclusion: Since hypotonia might be the only finding in newborns with PWS, this case was presented to emphasize the importance of a comprehensive approach to such patients.