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.
journal_name
J Neurogenetjournal_title
Journal of neurogeneticsauthors
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.subject
Has Abstractpub_date
2002-01-01 00:00:00pages
65-71issue
1eissn
0167-7063issn
1563-5260journal_volume
16pub_type
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