Researcher:
Çepni, Ece

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PhD Student

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Ece

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Çepni

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Çepni, Ece

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2020 - 20223

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Researcher Of Publications: search.filters.isAuthorOfPublication.19ce0bb8-00f6-432e-b201-53acc74f0ea8

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Now showing 1 - 3 of 3
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    Molecular complexity of spastic ataxias and hereditary spastic paraplegias in Turkey
    (Springernature, 2020) Apaydin, H.; N/A; Şimşir, Gülşah; Tekgül, Şeyma; Ertan, Fatoş Sibel; Çepni, Ece; Master Student; Master Student; Faculty Member; PhD Student; Graduate School of Sciences and Engineering; Graduate School of Sciences and Engineering; School of Medicine; Graduate School of Health Sciences; N/A; 63142; 112829; N/A
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    New case of dyskeratosis congenita 4 mimicking hoyeraal-hreidarsson syndrome with novel tert gene mutation
    (Springernature, 2022) N/A; N/A; N/A; Çepni, Ece; Avcı, Şahin; Kayserili, Hülya; PhD Student; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; N/A; 7945
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    Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings
    (Wiley, 2022) Moheb, Lia Abbasi; Rocha, Maria Eugenia; N/A; Kayserili, Hülya; Çepni, Ece; Faculty Member; PhD Student; School of Medicine; Graduate School of Health Sciences; 7945; N/A
    Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to pathogenic variants in the essential telomerase components. Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings. Hoyeraal-Hreidarsson syndrome (HHS) is generally an autosomal recessively inherited subgroup showing growth retardation, microcephaly, cerebellar hypoplasia and severe immunodeficiency. We here report on a consanguineous family from Turkey, in which a missense variant in the reverse transcriptase domain of the TERT gene segregated with short telomere lengths and was associated with full-blown short telomere syndrome phenotype in the index; and heterogeneous adult-onset manifestations in heterozygous individuals.