TERC is not a major gene in human neural tube defects.


Journal Article

BACKGROUND: Neural tube defects (NTDs) are the second most common birth defects, after congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere DNA, has been shown to be important for neural tube development and bilateral symmetry in the brain. In knockout mice null for the telomerase RNA component (TERC), telomere loss results in the failure of neural tube closure, primarily at the forebrain and midbrain. METHODS: We investigated TERC for variants that may predispose to human NTDs in 477 NTD cases with a variety of phenotypic presentations. RESULTS: Two novel single nucleotide polymorphisms were identified in the human TERC sequence but showed no association with the NTD phenotype. CONCLUSIONS: Variants in TERC are unlikely to be a major risk factor for the most common form of human NTDs, lumbosacral myelomeningocele.

Full Text

Duke Authors

Cited Authors

  • Benz, LP; Swift, FE; Graham, FL; Enterline, DS; Melvin, EC; Hammock, P; Gilbert, JR; Speer, MC; Bassuk, AG; Kessler, JA; George, TM; NTD Collaborative Group,

Published Date

  • August 2004

Published In

Volume / Issue

  • 70 / 8

Start / End Page

  • 531 - 533

PubMed ID

  • 15329831

Pubmed Central ID

  • 15329831

International Standard Serial Number (ISSN)

  • 1542-0752

Digital Object Identifier (DOI)

  • 10.1002/bdra.20057


  • eng

Conference Location

  • United States