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

262 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

Access to Document

10.1016/j.ntt.2004.12.007

Cite this

@article{442d68932a754425b1efd43bf6051dfc,

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.",

year = "2005",

month = may,

doi = "10.1016/j.ntt.2004.12.007",

language = "English (US)",

volume = "27",

pages = "515--524",

journal = "Neurobehavioral toxicology",

issn = "0892-0362",

publisher = "Elsevier Inc.",

number = "3",

}

TY - JOUR

T1 - Human neural tube defects

T2 - Developmental biology, epidemiology, and genetics

AU - Detrait, Eric R.

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

Y1 - 2005/5

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.

KW - Genetics

KW - Neural tube defect

KW - Teratology

UR - http://www.scopus.com/inward/record.url?scp=20444424616&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20444424616&partnerID=8YFLogxK

U2 - 10.1016/j.ntt.2004.12.007

DO - 10.1016/j.ntt.2004.12.007

M3 - Article

C2 - 15939212

AN - SCOPUS:20444424616

VL - 27

SP - 515

EP - 524

JO - Neurobehavioral toxicology

JF - Neurobehavioral toxicology

SN - 0892-0362

IS - 3

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this