Genetic studies in neural tube defects

Elizabeth C. Melvin, Timothy M. George, Gordon Worley, Amy Franklin, Joanne Mackey, Kristi Viles, Nishu Shah, Courtney R. Drake, David S. Enterline, David McLone, Jeffrey Nye, W. Jerry Oakes, Colleen McLaughlin, Marion L. Walker, Paula Peterson, Timothy Brei, Connie Buran, Joanna Aben, Bonnie Ohm, Iskandar BermansMazin Qumsiyeh, Jeffrey Vance, Margaret A. Pericak-Vance, Marcy C. Speer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright (C) 2000 S. Karger AG, Basel.

Original languageEnglish (US)
Pages (from-to)1-9
Number of pages9
JournalPediatric neurosurgery
Issue number1
StatePublished - Jan 2000


  • Genetic studies
  • Spina bifida

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Surgery


Dive into the research topics of 'Genetic studies in neural tube defects'. Together they form a unique fingerprint.

Cite this