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Title: Zinc finger protein 384 (ZNF384) identified in early-onset familial osteoporosis
Authors: Formosa, Melissa Marie
Palazzo, Dalila
Formosa, Robert
Camilleri, Nikita
Vassallo, Josanne
Carola Zillikens, M.
Uitterlinden, André G.
Rivadeneira, Fernando
Verkerk, Annemieke J. M. H.
Xuereb-Anastasi, Angela
Keywords: Osteoporosis in women -- Malta
Osteoporosis -- Etiology
Osteoporosis -- Genetic aspects
Menopause -- Complications
Issue Date: 2020-11
Publisher: John Wiley & Sons, Inc.
Citation: Formosa, M. M., Palazzo, D., Formosa, R., Camilleri, N., Vassallo, J., Zillikens, M. C., ... Xuereb-Anastasi, A. (2020). Zinc finger protein 384 (ZNF384) identified in early-onset familial osteoporosis. Journal of Bone and Mineral Research, 35(s1), 129.
Abstract: OBJECTIVES: Osteoporosis is a metabolic skeletal disease with a strong underlying genetic component. The study aimed to identify the genetic determinants of a penetrant form of early-onset osteoporosis in an extended Maltese family.
METHODS: A 3-generation pedigree of 29 relatives with ages ranging from 21 to 81 years was recruited. Osteoporosis was defined using T-score or Z-score measures of the lumbar spine and hip derived from DXA scans. The proband had a hip T-score of -2.9. A genome-wide linkage scan followed by whole exome sequencing was performed, whereas shortlisted variants were tested using Competitive Allele Specific PCR in a case-control collection of Maltese postmenopausal women. Pre-mRNA splicing aberrance was tested using an exon-trapping vector transfected in SaOS2 and hFOB cells.
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