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

Authors

Kit Sing Au
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
Hope Northrup

Publication Date

10-1-2008

Journal

Birth Defects Research

Abstract

BACKGROUND: 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 NTD and lead to a spectrum of physical and neurocognitive phenotypes.

METHODS: A multidisciplinary 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.

Keywords

Adolescent, Adult, Child, Child, Preschool, Data Collection, European Continental Ancestry Group, Family, Female, Hispanic Americans, Humans, Infant, Male, Meningomyelocele, Middle Aged, Population Groups, Questionnaires, Spinal Dysraphism