Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
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DOI：
10.1002/ajmg.a.32896
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发表时间：
2009-08
影响因子：
2
通讯作者：
Kang, Sung-Hae Lee
中科院分区：
文献类型：
--
作者：
Wat, Margaret J.;Shchelochkov, Oleg A.;Holder, Ashley M.;Breman, Amy M.;Dagli, Aditi;Bacino, Carlos;Scaglia, Fernando;Zori, Roberto T.;Cheung, Sau Wai;Scott, Daryl A.;Kang, Sung-Hae Lee
关键词：
8p23.1侧翼低拷贝重复序列8 p-OR-REPD和8 p-OR-REPP区域的复发性间质性缺失与一系列异常相关，包括先天性心脏畸形和先天性脑疝（CDH）。GATA 4的单倍不足被认为在这些出生缺陷的发展中起关键作用。我们描述了两个人和一个单卵双胞胎对不一致的前CDH，所有这些人都有复杂的先天性心脏病所造成的这种经常性的间质缺失阵列比较基因组杂交。为了更好地定义与8p23.1基因改变相关的基因型/表型关系，我们回顾了先天性心脏病和先天性心脏病缺陷的谱，这些缺陷在具有孤立的GATA 4突变和涉及8p23.1区域的间质、末端和复杂染色体重排的个体中已被报道。我们的研究结果使我们能够清楚地定义CDH染色体8p23.1上的最小缺失区域，并表明，单倍不足的其他基因，除了GATA 4，可能发挥作用，在严重的心脏和心脏缺陷相关的8p23.1缺失。这些发现也强调了在所有涉及心脏和/或横膈膜先天性缺陷的产前和产后病例中对8p23.1区域进行仔细的细胞遗传学/分子分析的重要性。
Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genome hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm.
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影响因子：
9.8
作者：
Giglio, S;Broman, KW;Zuffardi, O
通讯作者：
Zuffardi, O
影响因子：
4
作者：
BLENNOW, E;BRONDUMNIELSEN, K
通讯作者：
BRONDUMNIELSEN, K
影响因子：
4
作者：
Ciccone, R;Mattina, T;Zuffardi, O
通讯作者：
Zuffardi, O
DOI：
10.1002/ajmg.1182
发表时间：
2001-04-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
de Vries, BBA;Lees, M;Winter, RM
通讯作者：
Winter, RM
影响因子：
1.9
作者：
Borys, D;Taxy, JB
通讯作者：
Taxy, JB