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Title: Exome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis
Authors: Formosa, Melissa Marie
Formosa, Robert
Linde, Herma C. Van Der
Metz, Juriaan R.
Flik, Gert
Khajuria, Deepak Kumar
Karasik, David
Carola Zillikens, M.
Willemsen, Rob
Uitterlinden, André G.
Ham, Tjakko J. van
Rivadeneira, Fernando
Verkerk, Annemieke J. M. H.
Xuereb-Anastasi, Angela
Keywords: Exomes
Osteoporosis -- Genetic aspects
Osteoporosis -- Malta
Wnt pathway
Issue Date: 2019
Publisher: Springer Nature Switzerland AG
Citation: Formosa, M. M., Formosa, R., van der Linde, H., Metz, J. R., Flik, G., Khajuria, D. K., ... Xuereb-Anastasi, A. (2019). Exome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis. Calcified Tissue International, 104, S15.
Abstract: OBJECTIVES: Genetic factors play an important role in osteoporosis pathogenesis. The study aimed to identify the genetic determinants of primary osteoporosis in a Maltese family, and investigate functionality of novel genes and variants using in vitro and in vivo methods.
METHODS: A 2-generation family of 12 relatives (including 7 siblings) aged 34–77 years was recruited. Osteoporosis was defined using DXA scans of the lumbar spine (LS) and hip. The proband had a LS T-score of - 4.0. Exome sequencing was performed on 6 relatives and replication of shortlisted variants was sought in the Malta Osteoporotic Fracture Study (MOFS, n = 1012). In vitro protein expression was analysed by transfecting in COS-7 cells and western blotting, whereas gene knockout consequences in zebrafish were assessed through measurements of BMD by micro-computed tomography, mineralisation rate using Alizarin red staining of the skeleton, and resorption activity by TRAcP staining of regenerating scales.
Appears in Collections:Scholarly Works - FacHScABS

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