Journal article
Genetic Basis of Neural Tube Defects
Seminars in pediatric neurology, Vol.16(3), pp.101-110
2009
DOI: 10.1016/j.spen.2009.06.001
PMID: 19778707
Abstract
Neural tube defects (NTDs) represent a common group of severe congenital malformations of the central nervous system. They result from failure of neural tube closure during early embryonic life. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. Despite a long history of etiologic studies, the molecular and cellular pathogenic mechanisms underlining NTDs remain poorly understood. The major epidemiologic finding in NTDs is the protective effect of perinatal folic acid supplementation that reduces their risk by 60%-70%. Genetic studies in NTDs have focused mainly on folate-related genes and identified a few significant associations between variants in these genes and an increased risk for NTDs. The candidate gene approach investigating genes involved in neurulation and inferred from animal models has faced limited success in identifying major causative genes predisposing to NTDs. However, we are witnessing a rapid and impressive progress in understanding the genetic basis of NTDs, based mainly on the development of whole genome innovative technologies and the powerful tool of animal models.
Details
- Title: Subtitle
- Genetic Basis of Neural Tube Defects
- Creators
- Alexander G Bassuk - Department of Pediatrics, University of Iowa, Iowa City, IAZoha Kibar - Department of Obstetrics and Gynecology, CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada
- Resource Type
- Journal article
- Publication Details
- Seminars in pediatric neurology, Vol.16(3), pp.101-110
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.spen.2009.06.001
- PMID
- 19778707
- ISSN
- 1071-9091
- eISSN
- 1558-0776
- Language
- English
- Date published
- 2009
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020618402771
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