Complex Congenital Heart Defects in Association with Maternal Diabetes and Partial Deletion of the A2BP1 Gene
Complex Congenital Heart Defects in Association with Maternal Diabetes and Partial Deletion of the A2BP1 Gene
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DOI：
10.3109/15513815.2010.547555
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发表时间：
2011-01-01
影响因子：
1.1
通讯作者：
Ahmed, Atif
中科院分区：
文献类型：
--
作者：
Lale, Seema;Yu, Shihui;Ahmed, Atif
在这篇文章中，我们报告了一例复杂的先天性心脏病的女性婴儿与母亲糖尿病谁最终死于败血症和术后并发症。解剖表型发现和器官畸形的详细。基因组学研究发现染色体16p13.2带A2BP1基因基因内缺失162 kb。据我们所知，这是第一次描述A2BP1基因缺失与先天性心脏异常有关。该病例也证明了母体糖尿病对基因转录的影响，并强调了在先天性异常新生儿中扫描人类基因组的重要性。
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.