AEBP1 gene variants in infants with gastroschisis

Authors

  • Marcia L. Feldkamp,

    Corresponding author
    1. Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
    • Division of Medical Genetics, University of Utah School of Medicine, 2C412 SOM, 50 North Mario Capecchi Drive, Salt Lake City, UT 84132
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  • Neil E. Bowles,

    1. Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine Salt Lake City, Utah
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  • Lorenzo D. Botto

    1. Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Supported by the Children's Health Research Center and the Primary Children's Medical Center Foundation and in part through cooperative agreements under PA 02081 and FOA DD09-001 from the Centers for Disease Control and Prevention to the Centers for Birth Defects Research and Prevention participating in the National Birth Defects Prevention Study.

  • The views expressed herein are solely the responsibility of the authors and do not necessarily represent the official views of the Centers for Disease Control and Prevention.

Abstract

BACKGROUND: The AEBP1 (adipocyte enhancer binding protein) gene has two isoforms: AEBP1, the shorter of the two isoforms, and Aclp (aortic carboxypeptidase-like protein). Aclp−/− mice demonstrate a ventral wall defect that is similar to gastroschisis in humans. Aclp is a potential candidate gene because it is expressed in numerous tissues during early development in mice; it associates with the extracellular matrix; and is essential for abdominal wall development and wound healing. In contrast, AEBP1 encodes an intracellular protein involved in proinflammatory responses, and may play a critical role in apoptosis and cell survival. Gastroschisis is a severe abdominal wall defect more common in young women and recently associated with a genitourinary infection early in pregnancy. METHODS: We screened AEBP1 in 40 cases of gastroschisis and compared identified variants in a control population. RESULTS: We identified several novel variants in AEBP1, including synonymous and nonsynonymous single nucleotide substitutions and intronic indels. However, the frequency of these variants was not significantly different from that of the control group, and the associated amino acid changes were predicted to be benign by two prediction software programs. CONCLUSIONS: Gastroschisis remains an intriguing defect that, for an unknown reason, occurs more commonly in young women and after a genitourinary infection. Although we found many alterations in AEBP1 among the gastroschisis cases, they were predicted to be benign. However, this gene requires further understanding of its interaction with other genes involved in the immune response pathway. Birth Defects Research (Part A) 94:738–742, 2012. © 2012 Wiley Periodicals, Inc.

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