A novel mutation in the gene encoding noggin is not causative in human neural tube defects.
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.
Bauer
Kim A
KA
Duke University Medical Center, Durham, North Carolina 27710, USA.
George
Timothy M
TM
Enterline
David S
DS
Stottmann
Rolf W
RW
Melvin
Elizabeth C
EC
Siegel
Deborah
D
Samal
Surekha
S
Hauser
Michael A
MA
Klingensmith
John
J
Nye
Jeffery S
JS
Speer
Marcy C
MC
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
D019485:Bone Morphogenetic Proteins; D002352:Carrier Proteins; D000099176:Noggin Protein