title: AEBP1 gene variants in infants with gastroschisis.
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.
authors: Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. marcia.feldkamp@hsc.utah.edu
authors: Marcia L
authors: ML
authors: Feldkamp
authors: Neil E
authors: NE
authors: Bowles
authors: Lorenzo D
authors: LD
authors: Botto
mesh_terms: D000328:Adult; D000483:Alleles; D002268:Carboxypeptidases / Q000235:genetics*; D005091:Exons; D005260:Female; D020139:Gastroschisis / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology / Q000235:genetics*; D011446:Prospective Studies; D012097:Repressor Proteins / Q000235:genetics*; D014552:Urinary Tract Infections / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D014589:Utah / Q000453:epidemiology; D044465:White People
chemical_list: C484818:AEBP1 protein, human; D012097:Repressor Proteins; D002268:Carboxypeptidases