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Current Osteoporosis Reports
Published in: Current Osteoporosis Reports 1/2018

01-02-2018 | Genetics (M Johnson and S Ralston, Section Editors)

Genetics of Osteopetrosis

Authors: Eleonora Palagano, Ciro Menale, Cristina Sobacchi, Anna Villa

Published in: Current Osteoporosis Reports | Issue 1/2018

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Abstract

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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Metadata
Title
Genetics of Osteopetrosis
Authors
Eleonora Palagano
Ciro Menale
Cristina Sobacchi
Anna Villa
Publication date
01-02-2018
Publisher
Springer US
Published in
Current Osteoporosis Reports / Issue 1/2018
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI
https://doi.org/10.1007/s11914-018-0415-2

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