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TERC is not a major gene in human neural tube defects


  • The NTD Collaborative Group includes: Joanna Aben, Children's Rehabilitation Service, Birmingham, Alabama; Arthur Aylsworth, Cynthia Powell, University of North Carolina, Chapel Hill, North Carolina; Joanne Mackey, Gordon Worley, Duke University Medical Center; Timothy Brei, Connie Buran, Indiana University School of Medicine, Indianapolis, Indiana; Joann Bodurtha, Kathleen Sawin, Medical College of Virginia, Richmond, Virginia; Mark S. Dias, Children's Hospital of Buffalo, Buffalo, NY; Philip Mack, Elli Meeropol, Shriner's Hospital, Springfield, Massachusetts; Nicole Lasarsky, Carolinas Medical Center, Charlotte, NC; David McLone, Joy Ito, Children's Memorial Hospital, Chicago, Illinois; W. Jerry Oakes, University of Alabama, Birmingham, Alabama; Marion Walker, Paula Peterson, University of Utah, Salt Lake City, Utah; and Bermans Iskandar, University of Wisconsin Hospitals, Madison, Wisconsin.



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.


We investigated TERC for variants that may predispose to human NTDs in 477 NTD cases with a variety of phenotypic presentations.


Two novel single nucleotide polymorphisms were identified in the human TERC sequence but showed no association with the NTD phenotype.


Variants in TERC are unlikely to be a major risk factor for the most common form of human NTDs, lumbosacral myelomeningocele. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc.