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Genetics and Developmental Biology of Closed Dysraphic Conditions

Copp, A; Jones, V; Greene, N; (2019) Genetics and Developmental Biology of Closed Dysraphic Conditions. In: Tubbs, RS and Oskouian, RJ and Blount, JP and Oakes, WJ, (eds.) Occult Spinal Dysraphism. (pp. 325-344). Springer: Cham, Switzerland. Green open access

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Abstract

Closed spinal dysraphic conditions are typically considered malformations of caudal development and have prompted intense speculation on possible pathogenic mechanisms. Ultimately, an understanding of developmental processes, both normal and abnormal, requires an experimental evidence base. This chapter surveys the experimental literature for clues to the genetics and developmental biology of human spinal dysraphism, based largely on studies in mouse models. Current trends in human disease gene identification, and the development of mouse genetic disease models are reviewed, as well as several key areas of developmental biology progress that relate to development of the caudal body axis. Open neural tube defects (e.g. myelomeningocele) are relatively well understood owing to the many mouse models of faulty neural tube closure. Closed lesions in which the spinal cord is tethered and associated with spinal lipoma are much less well represented in mouse models; only preliminary clues to their likely developmental origins can currently be discerned. Some closed sacro-caudal conditions have a more defined genetic and developmental biology basis, for example dorsal and ventral vertebral anomalies, caudal regression syndrome and Currarino triad. A future concerted research effort is needed to bring together clinical observations with research in developmental biology in this important area of paediatric clinical management.

Type: Book chapter
Title: Genetics and Developmental Biology of Closed Dysraphic Conditions
ISBN-13: 978-3-030-10993-6
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/978-3-030-10994-3_21
Publisher version: https://doi.org/10.1007/978-3-030-10994-3_21
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: developmental biology, genetics, neural tube, neurulation, mouse models, malformations, spinal cord, notochord, vertebrae
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
URI: https://discovery-pp.ucl.ac.uk/id/eprint/10071277
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