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.

journal_name

J Neurogenet

journal_title

Journal of neurogenetics

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.

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

65-71

issue

1

eissn

0167-7063

issn

1563-5260

journal_volume

16

pub_type

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