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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Bauer, KA; George, TM; Enterline, DS; Stottmann, RW; Melvin, EC; Siegel, D; Samal, S; Hauser, MA; Klingensmith, J; Nye, JS; Speer, MC; Neural Tube Defects Collaborative Group,

Published Date

  • January 2002

Published In

Volume / Issue

  • 16 / 1

Start / End Page

  • 65 - 71

PubMed ID

  • 12420790

International Standard Serial Number (ISSN)

  • 0167-7063


  • eng

Conference Location

  • England