Abstract
Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches.
Highlights
Accepted: 24 January 2021Biomedical research employs multiple scientific inquiry approaches, such as basic, clinical, and translational research and great advances have been made in any one of these fronts
RIPPLY2 mutations were described in several other individuals with vertebral defects, many times associated with additional congenital malformations [27,28]; DMRT2 (Doublesex And Mab-3 Related Transcription Factor 2; OMIM *604935)
As described the previous sections, the genetic mutations identified in Spondylocostal dysostosis (SCDO) padescribed the previous sections, the genetic mutations identified inLFNG, SCDOand patientsAsare in genesininvolved in the somitogenesis molecular clock—DLL3, tients are iningenes involvedofinthe thesomite somitogenesis molecular clock—DLL3, LFNG,Each and
Summary
Biomedical research employs multiple scientific inquiry approaches, such as basic, clinical, and translational research and great advances have been made in any one of these fronts. Congenital malformations, defined as structural or functional abnormalities that are present since birth, are globally responsible for 11% of newborn deaths [1]. These are largely due to genetic causes; phenotypic variability depends on epigenetic components and environmental factors to which the individual is exposed during embryo development [2]. Data obtained from clinical, genetic, and developmental biology studies are steadily closing the gaps on the comprehension of this rare, albeit severe congenital disease. A summary of the phenotypic and genetic characteristics of SCDO is presented. The newly emerging in vitro models to study the human somitogenesis clock and SCDO onset are discussed
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
