Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals

dc.contributor.authorAu, Sing Kit
dc.contributor.authorTran, Phong X.
dc.contributor.authorTsai, Chester C.
dc.contributor.authorO'Byrne, Michelle R.
dc.contributor.authorLin, Jone-Ing
dc.contributor.authorMorrison, Alanna C.
dc.contributor.authorHampson, Amy W.
dc.contributor.authorCirino, Paul T.
dc.contributor.authorFletcher, Jack M.
dc.contributor.authorOstermaier, Kathryn K.
dc.contributor.authorTyerman, Gayle H.
dc.contributor.authorDoebel, Sabine
dc.contributor.authorNorthrup, Hope
dc.description.abstractBACKGROUND. Meningomyelocele (MM) is a common human birth defect. MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the neural tube defect and lead to a spectrum of physical and neurocognitive phenotypes. METHODS. A multi-disciplinary approach has been taken to develop a comprehensive understanding of MM through collaborative efforts from investigators specializing in genetics, development, brain imaging, and neurocognitive outcome. Patients have been recruited from five different sites: Houston and the Texas-Mexico border area; Toronto, Canada; Los Angeles, California; and Lexington, Kentucky. Genetic risk factors for MM have been assessed by genotyping and association testing using the transmission disequilibrium test. RESULTS. A total of 509 affected child/parent trios and 309 affected child/parent duos have been enrolled to date for genetic association studies. Subsets of the patients have also been enrolled for studies assessing development, brain imaging, and neurocognitive outcomes. The study recruited two major ethnic groups with 45.9% Hispanics of Mexican descent and 36.2% North American Caucasians of European descent. The remaining patients are African American, South and Central American, Native American and Asian. Studies of this group of patients have already discovered distinct corpus callosum morphology and neurocognitive deficits that associate with MM. We have identified maternal MTHFR 667T allele as a risk factor for MM. In addition, we also found that several genes for glucose transport and metabolism are potential risk factors for MM. CONCLUSIONS. The enrolled patient population provides a valuable resource for elucidating the disease characteristics and mechanisms for MM development.
dc.identifier.citationCopyright 2008 Birth Defects Research Part A: Clinical and Molecular Teratology. This is a post-print version of a published paper that is available at: Recommended citation: Au, Sing Kit, Phong X. Tran, Chester C. Tsai, Michelle R. O'Byrne, Jone-Ing Lin, Alanna C. Morrison, Amy W. Hampson, Paul Cirino, Jack M. Fletcher, Kathryn K. Ostermaier, Gayle H. Tyerman, Sabine Doebel, and Hope Northrup. "Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals." Birth Defects Research Part A: Clinical and Molecular Teratology 82, no. 10 (2008): 692-700. doi: 10.1002/bdra.20499. This item has been deposited in accordance with publisher copyright and licensing terms and with the author's permission.
dc.publisherBirth Defects Research Part A: Clinical and Molecular Teratology
dc.subjectBrain morphology
dc.titleCharacteristics of a spina bifida population including North American Caucasian and Hispanic individuals


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