Browsing by Subject "dried blood spot testing"

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    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
    (Turkish Society of Cardiology, 2023) Oktay V.; Tüfekçioğlu O.; Yılmaz D.Ç.; Onrat E.; Karabulut D.; Çelik M.; Balcıoğlu A.S.; Sucu M.M.; Özdemir G.; Kaya H.; Kış M.; Güven B.; Bağdatoğlu O.; Çağlar F.N.T.; Yüksel U.Ç.; Düzen İ.V.; Barutçu A.; Şimşir Ö.S.; Başarıcı İ.; Parspur A.; Dalgıç O.; Özlük F.Ö.A.; Evlice M.; Sağ S.; Deniz M.F.; Öcal A.; Gazi E.; Şen T.; Özdabakoğlu O.; Çakıcı N.B.; Bakır E.O.; Kunak A.Ü.; Çaylı G.; Taşdelen A.G.; Akşit E.; Çil Ş.U.; Onay H.
    Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower. Copyright@Author(s) - Available online at anatoljcardiol.com.
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    Successful management of delayed-onset adenosine deaminase deficiency with novel mutation
    (Newlands Press Ltd, 2024) Çelik F.Ç.; Soyöz Ö.; Bölük S.Ö.; Taşklrdl I.; Hacl I.A.; Kaya M.A.; Demir A.; Uzunoǧlu B.; Ylldlrlm A.T.; Onay H.; Gözmen S.; Gülez N.; Genel F.
    A 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation. © 2023 Future Medicine Ltd.