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    Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey
    (Wiley, 2021) Daimagueler, Huelya-Sevcan; Akpulat, Ugur; Oezdemir, Oezkan; Yis, Uluc; Gungor, Serdal; Talim, Beril; Diniz, Gulden
    Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by muscle weakness at birth, while limb-girdle muscular dystrophies (LGMD) have a later onset and slower disease progression. Thus, detailed clinical phenotyping of genetically defined disease entities are required for the full understanding of genotype-phenotype correlations. A recently defined myopathic genetic disease entity is caused by bi-allelic variants in a gene coding for pyridine nucleotide-disulfide oxidoreductase domain 1 (PYROXD1) with unknown substrates. Here, we present three patients from two consanguineous Turkish families with mild LGMD, facial weakness, normal CK levels, and slow progress. Genomic analyses revealed a homozygous known pathogenic missense variant (c.464A>G, p.Asn155Ser) in family 1 with two affected females. In the affected male of family 2, we found this variant in a compound heterozygous state together with a novel frameshift variant (c.329_332delTCTG, p.Leu112Valfs*8), which is the second frameshift variant known so far in PYROXD1. We have been able to define a large homozygous region in family 1 sharing a common haplotype with family 2 in the critical region. Our data suggest that c.464A>G is a Turkish founder mutation. To gain deeper insights, we performed a systematic review of all published PYROXD1-related myopathy cases. Our analysis showed that the c.464A > G variant was found in 87% (20/23) of the patients and that it may cause either a childhood- or adult-onset phenotype, irrespective of its presence in a homozygous or compound heterozygous state. Interestingly, only four patients had elevated CK levels (up to 1000 U/L), and cardiac involvement was found in few compound heterozygous cases.
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    Inflammation and anemia in simple febrile seizures and complex febrile seizures
    (2021) Polat, Ipek; Karaoglu, Pakize; Ayanoglu, Muge; Cirali, Ceren; Bayram, Erhan; Yis, Uluc; Hiz, Semra
    Aim: This is a unique study that aimed to determine anemia and inflammatory status in simple febrile seizure vs complex febrile seizure patients. Neutrophil/lymphocyte ratio and platelet/lymphocyte ratio are positively correlated with inflammatory markers including TNF alpha and IL-6. They are practical, inexpensive, and valuable tools for evaluating inflammation. Materials and Methods: Patients presenting with first febrile seizures were enrolled retrospectively. We investigated hemoglobin, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin concentration and red blood cell distribution width values and white blood cell count, neutrophil, lymphocyte count, neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and mean platelet volume, C - reactive protein. Results: Our study showed that higher neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and lower mean platelet volume values in complex febrile seizure cases than simple febrile seizure cases. We determined cut-off values for neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and mean platelet volume of 2.5, 10523.3, and 7.3 respectively. Conclusion: High neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and low mean platelet volume values can help distinguish simple febrile seizure and complex febrile seizure patients and predict the clinic. The optimal cut-off values that we determined may guide clinicians.
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    Severe neurodevelopmental disease caused by a homozygous TLK2 variant
    (Nature Publishing Group, 2020) Topf, Ana; Oktay, Yavuz; Balaraju, Sunitha; Yilmaz, Elmasnur; Sonmezler, Ece; Yis, Uluc; Laurie, Steven
    A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism.
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    y COL4A1-related autosomal recessive encephalopathy in 2 Turkish children
    (Lippincott Williams & Wilkins, 2020) Yaramis, Ahmet; Lochmueller, Hanns; Topf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc
    Objective This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents. Results We have identified a homozygous missense mutation in COL4A1 (p.Gly1278Ser, NM_ 001845.5:c.3832G>T) in 2 siblings affected by small vessel brain disease with periventricular leukoencephalopathy and ocular defects. Presenting symptoms included mild weakness, hemiparetic gait, pyramidal findings, and seizures, whereas their intellectual and behavioral functions were normal. Both parents and 5 of the siblings (3 boys and 2 girls) were heterozygous for the variant. They did not show any clinical or laboratory signs of small vessel disease. Conclusions COL4A1 has previously been associated with dominant small vessel disease of the brain and other organs, manifesting with high penetrance in heterozygous mutation carriers. Our findings provide evidence that COL4A1-related encephalopathy can be inherited in an autosomal recessive manner, which is important for counseling, prognosis, and treatment. Genotypephenotype correlations remain to be established.