Journal
CURRENT OSTEOPOROSIS REPORTS
Volume 16, Issue 1, Pages 13-25Publisher
SPRINGER
DOI: 10.1007/s11914-018-0415-2
Keywords
Osteopetrosis; Osteoclast; Pathogenesis; Next-generation sequencing
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Funding
- European Community
- PRIN Projects [20102M7T8X_003, 2015F3JHMB_004]
- Programma Nazionale per la Ricerca-Consiglio Nazionale delle Ricerche Aging Project
- Ministero della Salute - Giovani Ricercatori [GR-2011-02348266]
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Purpose of Review The term osteopetrosis refers to a group of rare skeletal diseases sharing the hallmark of a generalized increase in bone density owing to a defect in bone resorption. Osteopetrosis is clinically and genetically heterogeneous, and a precise molecular classification is relevant for prognosis and treatment. Here, we review recent data on the pathogenesis of this disorder. Recent Findings Novel mutations in known genes as well as defects in new genes have been recently reported, further expanding the spectrum of molecular defects leading to osteopetrosis. Summary Exploitation of next-generation sequencing tools is ever spreading, facilitating differential diagnosis. Some complex phenotypes in which osteopetrosis is accompanied by additional clinical features have received a molecular classification, also involving new genes. Moreover, novel types of mutations have been recognized, which for their nature or genomic location are at high risk being neglected. Yet, the causative mutation is unknown in some patients, indicating that the genetics of osteopetrosis still deserves intense research efforts.
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