De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.
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DOI：
10.1002/ajmg.a.37830
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发表时间：
2016-09
影响因子：
2
通讯作者：
Longoni, Mauro
中科院分区：
文献类型：
--
作者：
High, Frances A.;Bhayani, Pooja;Wilson, Jay M.;Bult, Carol J.;Donahoe, Patricia K.;Longoni, Mauro
关键词：
COUP-TFII （NR2F2）被定位到与常见和高发病率的先天性膈疝（CDH）相关的15q26缺失热点。小鼠中COUP-TFII的条件纯合缺失导致类似于人类bochdalek型疝气表型的膈缺陷。然而，尽管有动物模型的证据，COUP-TFII编码序列的突变尚未在患者中报道，这促使人们猜测15q26位点的额外编码或非编码序列对于膈疝的发展是必要的。在本报告中，我们描述了一例患者的杂合子从头COUP-TFII移码突变，表现为CDH和房间隔缺损。p.p pro33alafster77突变特异性地破坏了含有DNA结合域的蛋白质异构体1。此外，我们回顾了在CDH病例中描述的其他COUP-TFII序列变异和缺失。我们得出结论，COUP-TFII突变可导致膈疝，应纳入CDH患者的鉴别诊断，特别是那些合并先天性心脏缺陷的患者。
COUP-TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of COUP-TFII in mice result in diaphragmatic defects analogous to the human Bochdalek-type hernia phenotype. Despite evidence from animal models however, mutations in the coding sequence of COUP-TFII have not been reported in patients, prompting the speculation that additional coding or non-coding sequences in the 15q26 locus are necessary for diaphragmatic hernias to develop. In this report, we describe a case of a patient with a heterozygous de novo COUP-TFII frameshift mutation, presenting with CDH and an atrial septal defect. The p.Pro33AlafsTer77 mutation specifically disrupts protein isoform 1 which contains the DNA binding domain. In addition, we review other COUP-TFII sequence variations and deletions that have been described in cases of CDH. We conclude that COUP-TFII mutations can cause diaphragmatic hernias, and should be included in the differential diagnosis of CDH patients, particularly those with comorbid congenital heart defects.
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影响因子：
3.5
作者：
Longoni M;Russell MK;High FA;Darvishi K;Maalouf FI;Kashani A;Tracy AA;Coletti CM;Loscertales M;Lage K;Ackerman KG;Woods SA;Ward-Melver C;Andrews D;Lee C;Pober BR;Donahoe PK
通讯作者：
Donahoe PK
影响因子：
2
作者：
Arrington, Cammon B.;Bleyl, Steven B.;Matsunami, Nori;Bowles, Neil E.;Leppert, Tami I.;Demarest, Bradley L.;Osborne, Karen;Yoder, Bradley A.;Byrne, Janice L.;Schiffman, Joshua D.;Null, Donald M.;DiGeronimo, Robert;Rollins, Michael;Faix, Roger;Comstock, Jessica;Camp, Nicola J.;Leppert, Mark F.;Yost, H. Joseph;Brunelli, Luca
通讯作者：
Brunelli, Luca
影响因子：
2.6
作者：
Zhang, P;Bennoun, M;Vasseur-Cognet, M
通讯作者：
Vasseur-Cognet, M
影响因子：
2.4
作者：
Doi, Takashi;Sugimoto, Kaoru;Puri, Prem
通讯作者：
Puri, Prem
影响因子：
2.4
作者：
Montedonico, Sandra;Sugimoto, Kaoru;Puri, Prem
通讯作者：
Puri, Prem