Human neural tube defects: developmental biology, epidemiology, and genetics.
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.
Detrait
Eric R
ER
Hôpital Necker, Enfants Malades Unité INSERM U393, 149, rue de Sèvres, 75743 Paris Cedex 15, France.
George
Timothy M
TM
Etchevers
Heather C
HC
Gilbert
John R
JR
Vekemans
Michel
M
Speer
Marcy C
MC
D000818:Animals; D004777:Environment; D005260:Female; D006801:Humans; D051379:Mice; D009420:Nervous System / Q000196:embryology; D009436:Neural Tube Defects / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D011247:Pregnancy