Browsing by Author "Hafizoğlu, Demet"

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    Prenatal diagnosis in a family of TNFRSF11A (rank) gene mutation detection: A case report
    (Galenos Yayıncılık, 2014-08-01) Gülten, Tuna; Yakut, Tahsin; Kimya, Yalçın; Gül, Davut; Kılıç, Şebnem Sara; Görükmez, Orhan; Başaranoğlu, Sevgen Tanır; Sağ, Şebnem Özemri; Hafızoğlu, Demet; Karkucak, Mutlu; KILIÇ GÜLTEKİN, SARA ŞEBNEM; ÖZEMRİ SAĞ, ŞEBNEM; Hafizoğlu, Demet; Başaranoğlu, Sevgen Tanir; Görukmez, Orhan; Kimya, Yalçın; Karkucak, Mutlu; Gülten, Tuna; Yakut, Tahsin; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmünoloji Bilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı.; 0000-0002-9241-0896; 0000-0001-8571-2581; ABI-5648-2022; AAH-8355-2021; AFZ-0764-2022; U-2921-2017; AAC-8665-2020; AAH-1658-2021; JKF-9856-2023; GIS-1493-2022; FDX-3894-2022
    Autosomal recessive osteoporosis (ARO) is a severe disease causing death usually at infancy or childhood. RANKL coded by TNFSF11 gene and RANK coded by TNFRSF11A gene are important proteins for osteoclast maturation and it is indicated that mutation on these genes plays an important role for ARO development. It is reported in this article that c.508 A -> G homozygote mutation (pArg170Gly) is observed in TNFRSF11A gene of 2 children of consanguineous couple. Mutation analysis performed on CVS material during the next pregnancy revealed heterozygous mutation in the fetus. The pregnancy was continued to term and a healthy boy was delivered. Prenatal mutation analysis is important for diseases with known mutations to relieve parental anxiety and provide genetic counselling for the family.