Complex congenital heart defects in association with maternal diabetes and partial deletion of the A2BP1 gene.

In this article, we report a case of complex congenital heart disease in a female infant with maternal diabetes who eventually died of sepsis and post-surgical complications. The autopsy phenotypic findings and organ malformations are detailed. Genomic studies identified a 162 kb intragenic deletion of A2BP1 gene within chromosome band 16p13.2. To our knowledge, this is the first description of A2BP1 gene deletion in association with congenital heart anomalies. This case also demonstrates the effect of maternal diabetes on gene transcription and emphasizes the importance of scanning the human genome in neonates born with congenital anomalies.