Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
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DOI：
10.1007/s00439-016-1727-x
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发表时间：
2016-12
期刊：
影响因子：
5.3
通讯作者：
Mills, James L.
中科院分区：
文献类型：
--
作者：
Hagen, Erin M.;Sicko, Robert J.;Kay, Denise M.;Rigler, Shannon L.;Dimopoulos, Aggeliki;Ahmad, Shabbir;Doleman, Margaret H.;Fan, Ruzong;Romitti, Paul A.;Browne, Marilyn L.;Caggana, Michele;Brody, Lawrence C.;Shaw, Gary M.;Jelliffe-Pawlowski, Laura L.;Mills, James L.
典型的心脏异位症是由先天性心脏缺陷和胸腹部器官的位置异常组成的。我们的目的是发现新的，基因组拷贝数变异（CNVs）在经典的异位病例。使用含有250万个单核苷酸多态性（SNP）的微阵列对1998年至2009年加州活产的69例典型异位症婴儿（病例）进行基因分型。使用PennCNV软件鉴定CNV。我们鉴定了56种罕见的CNV，包括NODAL（NIPBL，TBX 6），BMP（PPP 4C）和WNT（FZD 3）信号通路中的基因，这些基因以前与经典的内脏异位无关。我们还发现了一个涉及FGF 12的CNV，这是一个以前在经典的异位病例中发现的基因。在多个病例中检测到涉及RBFOX 1和MIR 302 F附近的CNV。我们的研究结果说明了心脏发育和左/右轴确定的身体模式途径的重要性。FGF 12、RBFOX 1和MIR 302 F在人类异位症中可能很重要，因为它们在多个病例中被注意到。需要进一步研究参与NODAL、BMP和WNT身体模式途径的基因以及FGF 12、RBFOX 1和MIR 302 F的剂量效应。
Classic heterotaxy consists of congenital heart defects with abnormally positioned thoracic and abdominal organs. We aimed to uncover novel, genomic copy-number variants (CNVs) in classic heterotaxy cases. A microarray containing 2.5 million single-nucleotide polymorphisms (SNPs) was used to genotype 69 infants (cases) with classic heterotaxy identified from California live births from 1998 to 2009. CNVs were identified using the PennCNV software. We identified 56 rare CNVs encompassing genes in the NODAL (NIPBL, TBX6), BMP (PPP4C), and WNT (FZD3) signaling pathways, not previously linked to classic heterotaxy. We also identified a CNV involving FGF12, a gene previously noted in a classic heterotaxy case. CNVs involving RBFOX1 and near MIR302F were detected in multiple cases. Our findings illustrate the importance of body patterning pathways for cardiac development and left/right axes determination. FGF12, RBFOX1, and MIR302F could be important in human heterotaxy, because they were noted in multiple cases. Further investigation into genes involved in the NODAL, BMP, and WNT body patterning pathways and into the dosage effects of FGF12, RBFOX1, and MIR302F is warranted.
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