Genetic disorders affecting the skeletal system originate in a disruption of the complex processes of skeletal formation, growth and homeostasis. Several hundred genes involved in connective tissue metabolism and skeletal development have been identified and many of them have been linked to clinically defined disorders. Importantly, not only mutations in protein-encoding genes, but also in noncoding regulatory regions have been shown to result in similar skeletal defects as mutations in their target genes. This complexity and great variety of this class of disorders is intriguing and at the same time troublesome for both clinicians and scientists interested in skeletal biology. Multiple conditions classified as genetic skeletal disorders remain a diagnostic challenge due to both considerable phenotypic and genetic heterogeneity.
The rapid development of new technologies for genomic analysis enabled the discovery of novel genes, novel phenotypes associated with mutations in genes already linked to other phenotypes and novel mechanisms involved in skeletal disorders. This, in many cases, allowed a prompt diagnosis and improvement in clinical management of the patients.
In this Research Topic we would like to provide an overview of the most recent advances in the discovery of novel mechanisms and genetic basis of bone and joint disorders. We welcome submissions in any of the following topics:
(1) Reviews on genetics, classification and clinical management of skeletal disorders.
(2) New genes and/or molecular pathways driving skeletal disorders pathogenesis.
(3) Functional studies dissecting bone and cartilage formation, differentiation, growth and remodelling.
(4) Developments and advances in therapies for genetic skeletal disorders.
(5) Any others not explicitly mentioned but relevant to genetic disorders of bone and joints.
Genetic disorders affecting the skeletal system originate in a disruption of the complex processes of skeletal formation, growth and homeostasis. Several hundred genes involved in connective tissue metabolism and skeletal development have been identified and many of them have been linked to clinically defined disorders. Importantly, not only mutations in protein-encoding genes, but also in noncoding regulatory regions have been shown to result in similar skeletal defects as mutations in their target genes. This complexity and great variety of this class of disorders is intriguing and at the same time troublesome for both clinicians and scientists interested in skeletal biology. Multiple conditions classified as genetic skeletal disorders remain a diagnostic challenge due to both considerable phenotypic and genetic heterogeneity.
The rapid development of new technologies for genomic analysis enabled the discovery of novel genes, novel phenotypes associated with mutations in genes already linked to other phenotypes and novel mechanisms involved in skeletal disorders. This, in many cases, allowed a prompt diagnosis and improvement in clinical management of the patients.
In this Research Topic we would like to provide an overview of the most recent advances in the discovery of novel mechanisms and genetic basis of bone and joint disorders. We welcome submissions in any of the following topics:
(1) Reviews on genetics, classification and clinical management of skeletal disorders.
(2) New genes and/or molecular pathways driving skeletal disorders pathogenesis.
(3) Functional studies dissecting bone and cartilage formation, differentiation, growth and remodelling.
(4) Developments and advances in therapies for genetic skeletal disorders.
(5) Any others not explicitly mentioned but relevant to genetic disorders of bone and joints.
