TERC is not a major gene in human neural tube defects

Lisa P. Benz, Frances E. Swift, Felicia L. Graham, David S. Enterline, Elizabeth C. Melvin, Preston Hammock, John R. Gilbert, Marcy C. Speer, Alexander G. Bassuk, John A. Kessler, Timothy M. George, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Joanne Mackey, Gordon Worley, Timothy Brei, Connie Buran, Joann Bodurtha, Kathleen SawinMark S. Dias, Philip Mack, Elli Meeropol, Nicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson, Bermans Iskandar

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)531-533
Number of pages3
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Issue number8
StatePublished - Aug 2004

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology


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