Human neural tube defects: Developmental biology, epidemiology, and genetics

Eric R. Detrait; Timothy M. George; Heather C. Etchevers; John R. Gilbert; Michel Vekemans; Marcy C. Speer

doi:10.1016/j.ntt.2004.12.007

Human neural tube defects: Developmental biology, epidemiology, and genetics

Eric R. Detrait, Timothy M. George, Heather C. Etchevers, John R. Gilbert, Michel Vekemans, Marcy C. Speer

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article › peer-review

248 Scopus citations

Abstract

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure.

Original language	English (US)
Pages (from-to)	515-524
Number of pages	10
Journal	Neurotoxicology and Teratology
Volume	27
Issue number	3
DOIs	https://doi.org/10.1016/j.ntt.2004.12.007
State	Published - May 2005

Keywords

Genetics
Neural tube defect
Teratology

ASJC Scopus subject areas

Cellular and Molecular Neuroscience
Neuroscience(all)
Toxicology

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10.1016/j.ntt.2004.12.007

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title = "Human neural tube defects: Developmental biology, epidemiology, and genetics",

abstract = "Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure.",

keywords = "Genetics, Neural tube defect, Teratology",

author = "Detrait, {Eric R.} and George, {Timothy M.} and Etchevers, {Heather C.} and Gilbert, {John R.} and Michel Vekemans and Speer, {Marcy C.}",

note = "Funding Information: The authors gratefully acknowledge support from NS39818, ES11375, HD39948, NS26630, and ES011961 and the Institut National pour la Sant{\'e} et la Recherche M{\'e}dicale (INSERM). Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",

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AU - George, Timothy M.

AU - Etchevers, Heather C.

AU - Gilbert, John R.

AU - Vekemans, Michel

AU - Speer, Marcy C.

N1 - Funding Information: The authors gratefully acknowledge support from NS39818, ES11375, HD39948, NS26630, and ES011961 and the Institut National pour la Santé et la Recherche Médicale (INSERM). Copyright: Copyright 2008 Elsevier B.V., All rights reserved.

PY - 2005/5

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N2 - Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure.

AB - Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure.

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KW - Teratology

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Human neural tube defects: Developmental biology, epidemiology, and genetics

Abstract

Keywords

ASJC Scopus subject areas

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