mersin univ saglık bilim derg Mersin Üniversitesi Sağlık Bilimleri Dergisi 1308-0830 Mersin University 10.26559/mersinsbd.808861 Health Care Administration Sağlık Kurumları Yönetimi Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu A case of osteogenesıs ımperfecta type 5 wıth dıfferent phenotypıc features wıth the presence of blue sclera https://orcid.org/0000-0002-4388-573X Güneş Korkut Didem ÇUKUROVA ÜNİVERSİTESİ https://orcid.org/0000-0001-7659-0500 Kor Deniz ÇUKUROVA ÜNİVERSİTESİ https://orcid.org/0000-0003-0529-2404 Bulut Fatma Derya SBÜ Adana Şehir Eğitim ve Araştırma Hastanesi https://orcid.org/0000-0002-7527-2620 Kılavuz Sebile SBÜ Van Eğitim ve Araştırma Hastanesi https://orcid.org/0000-0003-2786-1911 Ceylaner Serdar İntergen Genetik Laboratuvarı https://orcid.org/0000-0002-5324-0097 Ballı Tuğsan CUKUROVA UNIVERSITY https://orcid.org/0000-0001-7862-3038 Önenli Mungan H. Neslihan CUKUROVA UNIVERSITY 08 25 2021 14 2 354 359 10 25 2020 02 10 2021 Copyright © 2008, Mersin Üniversitesi Sağlık Bilimleri Dergisi 2008 Mersin Üniversitesi Sağlık Bilimleri Dergisi

Osteogenez İmperfekta, birçok fenotipe sahip, nadir görülen kalıtsal bir kemik metabolizması hastalığıdır. Tip I kollajen yapımından sorumlu genlerdeki mutasyonlar sonucunda oluşur. Hem otozomal dominant hem de otozomal resesif geçişli bu hastalıkta, vakaların %80'inden fazlası en yaygın COL1A1 ve COL1A2 genlerindeki mutasyonlarla ilişkilidir. IFITM5 genindeki mutasyonlar ise vakaların %5-10'undan sorumludur. IFITM5 geninde görülen en yaygın mutasyon “c. - 14C> T”, otozomal dominant Osteogenez İmperfekta Tip V'den sorumludur. Osteogenez İmperfekta Tip V’in klinik varyasyonu çoktur. Bazı durumlarda fenotipik özelliklerin zayıf olması tanıyı daha da zorlaştırır. Bu olgu sunumu hem hastanemizde ilk tanı konulan Osteogenez İmperfekta Tip V olgusu olması hem de klinik özelliklerinin farklı olması nedeniyle sunulmuştur.

Osteogenesis Imperfecta (OI) is a rare hereditary disease of bone metabolism which has many phenotypes. It occurs as a result of mutations in genes responsible for making Type I collagen. In this disease with both autosomal dominant and recessive inheritance, more than 80% of cases are associated with mutations in COL1A1-A2 genes. In the rest, mutations in the IFITM5 gene are responsible for 5-10% of the cases. The most common mutation seen in IFITM5 gene “c. - 14C> T ” is responsible for autosomal dominant OI Type V. There are many clinical variations of OI type V. The fact that the poor phenotypic features in some cases make the diagnosis more difficult. This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.

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