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    A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome
    (Elsevier Science Bv, 2018) Bir, Firdevs Dincsoy; Özdemir, Öztürk; Karakaya, Taner; Yildiz, Onur; Sılan, Fatma
    [Anstract Not Available]
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    Blau syndrome with a rare mutation in exon 9 of NOD2 gene
    (Taylor & Francis Ltd, 2019) Velickovic, Jelena; Sılan, Fatma; Bir, Firdevs Dincsoy; Sılan, Coşkun; Albuz, Burcu; Özdemir, Öztürk
    Blau syndrome is an autosomal dominant rare disease caused by mutations in NOD2 gene. Less than 200 patients published with Blau Syndrome Worldwide. We reported a 41-year old female Turkish patient diagnosed as Blau syndrome. Granulomatous dermatitis and severe headache, as well as recurrent chest and pelvic pain have been present since she was 8 years old. Arthritis started when she was teenage, hypertension diagnosed when she was 20 and other symptoms also occurred during the lifetime (severe preeclampsia, ischemic stroke, recurrent hemiparesis, recurrent-transient-vision-loss and renal-artery-stenosis). Genomic DNA was isolated from peripheral blood and 12 genes sequenced in Autoinflammatory panel on IonTorrent-S5-NGS platform with Parseq-VariFind (TM) AIPassay. NGS analysis showed 107 variants in in the index case, mainly benign with no strong association with Blau syndrome. Additionally, we identified one very rare missense mutation in NOD2 gene (c2803G>A, p.Val935Met) and in silico assessment of the mutation indicated possible pathogenic significance and strong association with Blau syndrome. In addition, we analyzed family members of the index case and identified the same mutation in NOD2 gene. The segregation analysis shows the presence of the same mutant allele in NOD2 gene in the index case affected sister, as well as in her son with arthralgia, while in her non affecter brother we didn't detect the Val935Met mutation in NOD2 gene. Blau Syndrome is known as a very rare disease, mainly caused by mutations in NOD2 gene. Missense mutation diagnosed in our case could be responsible for the phenotype of the index case. Our results indicate the importance of NGS testing and its major role in the detection of rare mutations that may responsible for the onset of autoinflammatory disorders.
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    Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families
    (Elsevier Science Bv, 2017) Bir, Firdevs Dincsoy; Dinckan, Nuriye; Guven, Yeliz; Bas, Firdevs; Altunoglu, Umut; Kuvvetli, Senem S.; Poyrazoglu, Sukran
    Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57.1% and osteopenia at 21.4%. In this study, RUNX2 sequencing revealed nine different variations in 11 families, eight being pathogenic of which one was novel gross insertion (c.1271_1272ins20) and one other being predicted benign in frame gross deletion (c.241_258del). (C) 2016 Elsevier Masson SAS. All rights reserved.
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    Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations
    (Elsevier Science Bv, 2018) Özdemir, Öztürk; Karakaya, Taner; Bir, Firdevs Dincsoy; Yildiz, Onur; Sılan, Fatma
    [Anstract Not Available]
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    Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis
    (Elsevier Science Bv, 2018) Sılan, Fatma; Karakaya, Taner; Bir, Firdevs Dincsoy; Paksoy, Baris; Özdemir, Öztürk
    [Anstract Not Available]
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    Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale
    (Elsevier Science Bv, 2018) Sılan, Fatma; Djurovic, Jelena; Bir, Firdevs Dincsoy; Sılan, Coşkun; Özdemir, Öztürk
    [Anstract Not Available]
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    The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations
    (Sage Publications Inc, 2018) Akarsu, Emel Oguz; Bir, Firdevs Dincsoy; Baykal, Can; Tasdemir, Volkan; Kara, Bulent; Bebek, Nerses; Gurses, Candan
    Lipoid proteinosis (LP) is a rare autosomal recessive disease characterized by deposition of hyaline material in skin and mucosae. Epilepsy, as an extracutaneous manifestation associated with typical mesial temporal calcifications, has already been identified, but its characteristics and long-term prognosis have not been thoroughly investigated. We included 7 consecutive patients with LP with typical intracranial calcifications out of 16 patients with ECM1 mutations and investigated the semiologic features, ictal and interictal EEG findings, and long-term prognosis of epilepsy in this genodermatosis. Four of them had seizures (57.1%), and focal seizures with motionless staring were the most common seizure phenotype, originating from bilateral mesial temporal areas, but interictal spikes were scant. Auras were observed in three patients, mostly as epigastric sensation and deja vu, which indicated mesial temporal lobe origin. Three patients with homozygous mutations in sixth and seventh exons of the ECM1 gene had a drug-resistant course at the end of long-term follow-up. Molecular genetic testing showed a rare compound heterozygous mutation in one patient, which was also associated with seizures but without drug-resistance. Our findings indicated a spectrum for epilepsy with a desperate drug-resistant course for decades in most patients with LP, which is still an underrecognized disease by neurologists.