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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|
Linde, Herma C. Van Der
Metz, Juriaan R.
Khajuria, Deepak Kumar
Carola Zillikens, M.
Uitterlinden, André G.
Ham, Tjakko J. van
Verkerk, Annemieke J. M. H.
Osteoporosis -- Genetic aspects
Osteoporosis -- Malta
|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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