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

Kim A. Bauer, Timothy M. George, David S. Enterline, Rolf W. Stottmann, Elizabeth C. Melvin, Deborah Siegel, Surekha Samal, Michael A. Hauser, John Klingensmith, Jeffery S. Nye, Marcy C. Speer, Joanna Aben, Arthur Aylsworth, Timothy Brei, Connie Buran, Joann Bodurtha, Katheleen Sawin, Mark Dias, Bermans Iskandar, Bonnie OhmNicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)65-71
Number of pages7
JournalJournal of Neurogenetics
Volume16
Issue number1
StatePublished - Jan 1 2002

Fingerprint

Neural Tube Defects
Mutation
Genes
Alleles
Meningomyelocele
Missense Mutation
DNA Sequence Analysis
Histidine
Proline
Fathers
Siblings

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cellular and Molecular Neuroscience

Cite this

Bauer, K. A., George, T. M., Enterline, D. S., Stottmann, R. W., Melvin, E. C., Siegel, D., ... Peterson, P. (2002). A novel mutation in the gene encoding Noggin is not causative in human neural tube defects. Journal of Neurogenetics, 16(1), 65-71.
Bauer, Kim A. ; George, Timothy M. ; Enterline, David S. ; Stottmann, Rolf W. ; Melvin, Elizabeth C. ; Siegel, Deborah ; Samal, Surekha ; Hauser, Michael A. ; Klingensmith, John ; Nye, Jeffery S. ; Speer, Marcy C. ; Aben, Joanna ; Aylsworth, Arthur ; Brei, Timothy ; Buran, Connie ; Bodurtha, Joann ; Sawin, Katheleen ; Dias, Mark ; Iskandar, Bermans ; Ohm, Bonnie ; Lasarsky, Nicole ; McLone, David ; Ito, Joy ; Jerry Oakes, W. ; Walker, Marion ; Peterson, Paula. / A novel mutation in the gene encoding Noggin is not causative in human neural tube defects. In: Journal of Neurogenetics. 2002 ; Vol. 16, No. 1. pp. 65-71.
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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.",
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Bauer, KA, George, TM, Enterline, DS, Stottmann, RW, Melvin, EC, Siegel, D, Samal, S, Hauser, MA, Klingensmith, J, Nye, JS, Speer, MC, Aben, J, Aylsworth, A, Brei, T, Buran, C, Bodurtha, J, Sawin, K, Dias, M, Iskandar, B, Ohm, B, Lasarsky, N, McLone, D, Ito, J, Jerry Oakes, W, Walker, M & Peterson, P 2002, 'A novel mutation in the gene encoding Noggin is not causative in human neural tube defects', Journal of Neurogenetics, vol. 16, no. 1, pp. 65-71.

A novel mutation in the gene encoding Noggin is not causative in human neural tube defects. / Bauer, Kim A.; George, Timothy M.; Enterline, David S.; Stottmann, Rolf W.; Melvin, Elizabeth C.; Siegel, Deborah; Samal, Surekha; Hauser, Michael A.; Klingensmith, John; Nye, Jeffery S.; Speer, Marcy C.; Aben, Joanna; Aylsworth, Arthur; Brei, Timothy; Buran, Connie; Bodurtha, Joann; Sawin, Katheleen; Dias, Mark; Iskandar, Bermans; Ohm, Bonnie; Lasarsky, Nicole; McLone, David; Ito, Joy; Jerry Oakes, W.; Walker, Marion; Peterson, Paula.

In: Journal of Neurogenetics, Vol. 16, No. 1, 01.01.2002, p. 65-71.

Research output: Contribution to journalArticle

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T1 - A novel mutation in the gene encoding Noggin is not causative in human neural tube defects

AU - Bauer, Kim A.

AU - George, Timothy M.

AU - Enterline, David S.

AU - Stottmann, Rolf W.

AU - Melvin, Elizabeth C.

AU - Siegel, Deborah

AU - Samal, Surekha

AU - Hauser, Michael A.

AU - Klingensmith, John

AU - Nye, Jeffery S.

AU - Speer, Marcy C.

AU - Aben, Joanna

AU - Aylsworth, Arthur

AU - Brei, Timothy

AU - Buran, Connie

AU - Bodurtha, Joann

AU - Sawin, Katheleen

AU - Dias, Mark

AU - Iskandar, Bermans

AU - Ohm, Bonnie

AU - Lasarsky, Nicole

AU - McLone, David

AU - Ito, Joy

AU - Jerry Oakes, W.

AU - Walker, Marion

AU - Peterson, Paula

PY - 2002/1/1

Y1 - 2002/1/1

N2 - 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.

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Bauer KA, George TM, Enterline DS, Stottmann RW, Melvin EC, Siegel D et al. A novel mutation in the gene encoding Noggin is not causative in human neural tube defects. Journal of Neurogenetics. 2002 Jan 1;16(1):65-71.