Genetics of Osteopetrosis

Overview

Journal Curr Osteoporos Rep

Publisher Current Science

Specialties Endocrinology
Orthopedics

Date 2018 Jan 17

PMID 29335834

Citations 43

Authors

Eleonora Palagano

Ciro Menale

Cristina Sobacchi

Anna Villa

Affiliations

Soon will be listed here.

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. 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.

Citing Articles

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Development and evaluation of siRNA-mediated gene silencing strategies for ADO2 therapy utilizing iPSCs model and DMPC-SPIONs delivery system.

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