title: A novel mutation in the gene encoding noggin is not causative in human neural tube defects.
abstract: 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.
authors.affiliation: Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: Kim A
authors.initials: KA
authors.lastname: Bauer
authors.forename: Timothy M
authors.initials: TM
authors.lastname: George
authors.forename: David S
authors.initials: DS
authors.lastname: Enterline
authors.forename: Rolf W
authors.initials: RW
authors.lastname: Stottmann
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Melvin
authors.forename: Deborah
authors.initials: D
authors.lastname: Siegel
authors.forename: Surekha
authors.initials: S
authors.lastname: Samal
authors.forename: Michael A
authors.initials: MA
authors.lastname: Hauser
authors.forename: John
authors.initials: J
authors.lastname: Klingensmith
authors.forename: Jeffery S
authors.initials: JS
authors.lastname: Nye
authors.forename: Marcy C
authors.initials: MC
authors.lastname: Speer
mesh_terms: D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D002352:Carrier Proteins; D002851:Chromatography, High Pressure Liquid; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008591:Meningomyelocele / Q000235:genetics; D009154:Mutation; D009436:Neural Tube Defects / Q000235:genetics*; D000099176:Noggin Protein
chemical_list: D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D000099176:Noggin Protein