Neural tube defects

Definition:

Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors. The most common and most severe NTDs include spina bifida (myelomeningocele) and anencephaly. Spina bifida is caused by failure of posterior neural tube closure resulting in exposure and/or herniation of the spinal cord. Anencephaly is caused by failure of anterior neural tube closure.

References:

[1]. Atsuo Kondo, et al. Neural tube defects: prevalence, etiology and prevention. Int J Urol. 2009 Jan;16(1):49-57. [Content Brief]

[2]. Chen Cheng, et al. The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome. Mol Genet Genomic Med. 2021 Jul;9(7):e1710. [Content Brief]

[3]. Jung Hwa Seo, et al. Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. Hum Mol Genet. 2011 Nov 15;20(22):4324-33. [Content Brief]

[4]. Ranad Shaheen, et al. T (brachyury) is linked to a Mendelian form of neural tube defects in humans. Hum Genet. 2015 Oct;134(10):1139-41. [Content Brief]

[5]. Yun-Ping Lei, et al. VANGL2 mutations in human cranial neural-tube defects. N Engl J Med. 2010 Jun 10;362(23):2232-5. [Content Brief]

[6]. Z Kibar, et al. Toward understanding the genetic basis of neural tube defects. Clin Genet. 2007 Apr;71(4):295-310. [Content Brief]

[7]. Zhi-Yong Lu, et al. Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor. Birth Defects Res A Clin Mol Teratol. 2008 Oct;82(10):736-41. [Content Brief]

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