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 S. Dias; Bermans Iskandar; Bonnie Ohm; Nicole Lasarsky; David McLone; Joy Ito; W. Jerry Oakes; Marion Walker; Paula Peterson

doi:10.1080/neg.16.1.65.71-1

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 S. Dias, Bermans Iskandar, Bonnie OhmNicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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 language	English (US)
Pages (from-to)	65-71
Number of pages	7
Journal	Journal of Neurogenetics
Volume	16
Issue number	1
DOIs	https://doi.org/10.1080/neg.16.1.65.71-1
State	Published - 2002

All Science Journal Classification (ASJC) codes

Genetics
Cellular and Molecular Neuroscience

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10.1080/neg.16.1.65.71-1

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Bauer, K. A., George, T. M., Enterline, D. S., Stottmann, R. W., Melvin, E. C., Siegel, D., Samal, S., Hauser, M. A., Klingensmith, J., Nye, J. S., Speer, M. C., Aben, J., Aylsworth, A., Brei, T., Buran, C., Bodurtha, J., Sawin, K., Dias, M. S., Iskandar, B., ... 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. https://doi.org/10.1080/neg.16.1.65.71-1

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title = "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.",

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

year = "2002",

doi = "10.1080/neg.16.1.65.71-1",

language = "English (US)",

volume = "16",

pages = "65--71",

journal = "Journal of Neurogenetics",

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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, MS, 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. https://doi.org/10.1080/neg.16.1.65.71-1

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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 S.

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

Y1 - 2002

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.

AB - 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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JO - Journal of Neurogenetics

JF - Journal of Neurogenetics

IS - 1

ER -

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

Abstract

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