Caudal Regression Syndrome - A Review Focusing on Genetic Associations.

08:00 EDT 18th March 2020 | BioPortfolio

Summary of "Caudal Regression Syndrome - A Review Focusing on Genetic Associations."

Caudal regression syndrome (CRS) represents a spectrum of clinical phenotypes with varying degrees of malformation of the lower body with involvement of structures deriving from all three layers of the trilaminar embryo. In this report we review areas of active investigation in the diagnosis, etiology, epidemiology, and treatment of the disease with a focus on underlying genetics. CRS pathobiology is complex and multifactorial with a significant contribution from environmental factors as evidenced in twin studies. Contemporary genomic and genetic investigations in both human primary tissue and murine in vitro and in vivo models implicate a variety of genes associated with caudal differentiation and neural cell migration in embryogenesis. A large number of identified targets center around the metabolic regulation of retinoic acid (RA) and its derivatives. Dysregulation of RA homeostasis has been associated with abnormal embryonic cell migration, differentiation, and organogenesis with resulting malformations and agenesis in both a laboratory and clinical setting. There appears to be a significant overlap in potential genetic targets with CRS and other developmental syndromes with similar presentations, such as VACTERL syndrome. CRS represents a spectrum of caudal developmental abnormalities with treatment options limited to mild and moderate expressions of disease. Continued research is necessary to further clarify the mechanisms of disease pathobiology and complex polygenetic and environmental interaction. Despite this, a fair amount of progress has been made in identifying genetic targets and downstream effectors contributing to pre-clinical and clinical progression.


Journal Details

This article was published in the following journal.

Name: World neurosurgery
ISSN: 1878-8769


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