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Published on: August 15, 2019
AEBP1 gene variants in infants with gastroschisis
Marcia L Feldkamp1, Neil E Bowles, Lorenzo D Botto
1Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. marcia.feldkamp@hsc.utah.edu
Insights
Researchers investigated the AEBP1 gene in gastroschisis cases, finding numerous variants but no significant differences compared to controls. These AEBP1 gene alterations were predicted to be benign, suggesting other factors may cause this abdominal wall defect.
Area of Science:
- Genetics and Molecular Biology
- Developmental Biology
- Medical Genetics
Background:
- Gastroschisis is a severe congenital abdominal wall defect.
- The AEBP1 gene has two isoforms with distinct cellular roles.
- Aclp, an AEBP1 isoform, is crucial for abdominal wall development in mice.
Purpose of the Study:
- To investigate the role of the AEBP1 gene in the etiology of human gastroschisis.
- To screen for novel variants in AEBP1 in gastroschisis patients.
Main Methods:
- Sequencing of the AEBP1 gene in 40 gastroschisis cases.
- Comparison of variant frequencies with a control population.
- In silico prediction of variant pathogenicity.
Main Results:
- Multiple novel variants in AEBP1 were identified in gastroschisis cases.
- No significant difference in variant frequency was observed between cases and controls.
- Predicted benign nature of identified AEBP1 variants.
Conclusions:
- The AEBP1 gene variants found are unlikely to be the primary cause of gastroschisis.
- Further research is needed to understand AEBP1's interaction with immune response pathways.
- The etiology of gastroschisis, particularly its higher incidence in young women, remains largely unknown.
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.
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