A novel mutation in the gene encoding Noggin is not causative in human neural tube defects

Kim A. Bauer, Timothy M. George, David S. Enterline, Rolf W. Stottmann, Elizabeth C. Melvin, Deborah Siegel, Surekha Samal, Michael A. Hauser, John Klingensmith, Jeffery S. Nye, Marcy C. Speer, Joanna Aben, Arthur Aylsworth, Timothy Brei, Connie Buran, Joann Bodurtha, Katheleen Sawin, Mark S. Dias, Bermans Iskandar, Bonnie OhmNicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Neural tube defects (NTD) are a common birth defect, with both genetic and environmental contributions to their etiology. In mouse, null mutations in Noggin result in fully-penetrant NTDs. We investigated Noggin for mutations that may predispose to human NTDs in 202 NTD cases. One variant allele was identified in a male patient with myelomeningocele. The patient's father and a sibling also carried the variant allele, but neither was affected with an open NTD. DNA sequencing confirmed a C1064A missense mutation predicted to result in the conversion of residue 84 from proline to histidine. The variant found in the NTD patient is a newly identified variant, the role of which is uncertain.

Original languageEnglish (US)
Pages (from-to)65-71
Number of pages7
JournalJournal of Neurogenetics
Issue number1
StatePublished - 2002

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cellular and Molecular Neuroscience


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