title: Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly.
abstract: Iniencephaly is a rare and mostly lethal type of neural tube defect. The pattern of inheritance of this group of malformations is multifactorial, rendering the identification of the underlying causes. Numerous studies have been conducted to elucidate the genetic basis of human neurulation. Essential signaling pathways of the development of the CNS include the planar cell polarity pathway, which is important for the initiation of neural tube closure, as well as the sonic hedgehog pathway, which regulates the neural plate bending. Genes influencing the different stages of neurulation have been investigated for their eventual role in the development of these malformations. Among the environmental factors, folic acid seems to be the most important modifier of the risk of human neural tube defects. Genes of the folate metabolism pathways have also been investigated to identify mutations resulting in increased risk of neural tube defects. In this review we have attempted to summarize the knowledge on iniencephaly and neural tube defects, with special regard to genetic factors of the etiology.
authors.affiliation: 1st Department of Obstetrics and Gynecology, Faculty of General Medicine, Semmelweis University, 1088 Budapest, Baross utca 27, Hungary. joogabor@hotmail.com
authors.forename: József Gábor
authors.initials: JG
authors.lastname: Joó
mesh_terms: D000818:Animals; D016764:Cell Polarity; D002490:Central Nervous System / Q000002:abnormalities / Q000196:embryology / Q000254:growth & development; D004627:Embryonic Induction; D005492:Folic Acid / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D009024:Morphogenesis; D054259:Neural Tube / Q000196:embryology / Q000254:growth & development; D009436:Neural Tube Defects / Q000209:etiology / Q000235:genetics; D015398:Signal Transduction / Q000502:physiology
chemical_list: D005492:Folic Acid