Browsing by Author "Dagcinar, Adnan"

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls With Central Precocious Puberty
    (ENDOCRINE SOC, 2021-01-01) Helvacioglu, Didem; Turan, Serap Demircioglu; Guran, Tulay; Atay, Zeynep; Dagcinar, Adnan; Bezen, Digdem; Ozturan, Esin Karakilic; Darendeliler, Feyza; Yuksel, Aysegul; Dursun, Fatma; Kilinc, Suna; Semiz, Serap; Abali, Saygin; Yildiz, Metin; Onder, Asan; Bereket, Abdullah
    Context: Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated. Objective: To investigate the frequency, long-term outcome and potential predictors of CNS lesions in a large cohort of girls with CPP. Methods: A multicenter cohort of 770 Turkish girls with CPP who had systematic cranial MRI between 2005 and 2017. Age at puberty onset was <6 years in 116 and 6-8 years in 654. CNS lesions were followed until final decision(6.2 +/- 3.1 years). Potential predictors of CNS lesions were evaluated by univariate analyses. Results: A total of 104/770 (13.5\%) girls had abnormal brain MRI. Of these, 2.8\% were previously known CNS lesions, 3.8\% had newly detected and causally related CNS lesions, 3.1 \% were possibly, related and 3.8\% were incidental. Only 2 (0.25\%) neoplastic lesions (1 low grade glioma and 1 meningioma) were identified
  • No Thumbnail Available
    Item
    Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene
    (NATURE PUBLISHING GROUP, 2015-01-01) Bayrakli, Fatih; Poyrazoglu, Hatice Gamze; Yuksel, Sirin; Yakicier, Cengiz; Erguner, Bekir; Sagiroglu, Mahmut Samil; Yuceturk, Betul; Ozer, Bugra; Doganay, Selim; Tanrikulu, Bahattin; Seker, Askin; Akbulut, Fatih; Ozen, Ali; Per, Huseyin; Kumandas, Sefer; Torun, Yasemin Altuner; Bayri, Yasar; Sakar, Mustafa; Dagcinar, Adnan; Ziyal, Ibrahim
    We report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853\_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.