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

摘要: 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 fully-penetrant NTDs. We investigated for that may predispose human NTDs 202 NTD cases. One variant allele was identified male patient myelomeningocele. The patient's father sibling also carried the allele, but neither affected an open NTD. DNA sequencing confirmed C1064A missense mutation predicted conversion of residue 84 from proline histidine. found is newly variant, role which uncertain.