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Current Osteoporosis Reports

Erschienen in:

15.01.2018 | Genetics (M Johnson and S Ralston, Section Editors)

Genetics of Osteopetrosis

verfasst von: Eleonora Palagano, Ciro Menale, Cristina Sobacchi, Anna Villa

Erschienen in: Current Osteoporosis Reports | Ausgabe 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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Titel: Genetics of Osteopetrosis
verfasst von: Eleonora Palagano
Ciro Menale
Cristina Sobacchi
Anna Villa
Publikationsdatum: 15.01.2018
Verlag: Springer US
Erschienen in: Current Osteoporosis Reports / Ausgabe 1/2018
Print ISSN: 1544-1873
Elektronische ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-018-0415-2

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