Knowledge Resource Center for Ecological Environment in Arid Area
DOI | 10.1002/ajmg.a.33757 |
Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication | |
Vlangos, Christopher N.1,2; Siuniak, Amanda1,2; Ackley, Todd1; van Bokhoven, Hans3; Veltman, Joris3; Iyer, Ram1,4; Park, John M.5; Keppler-Noreuil, Kim6; Keegan, Catherine E.1,2 | |
通讯作者 | Keegan, Catherine E. |
来源期刊 | AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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ISSN | 1552-4825 |
EISSN | 1552-4833 |
出版年 | 2011 |
卷号 | 155A期号:1页码:38-49 |
英文摘要 | Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex, or cloacal exstrophy (EC), is a rare constellation of malformations in humans involving the urogenital, gastrointestinal, and skeletal systems, and less commonly the central nervous system. Although OEIS complex is well-recognized in the clinical setting, there remains a significant lack of understanding of this condition at both the developmental and the genetic level. While most cases are sporadic, familial cases have been reported, suggesting that one or more specific genes may play a significant role in this condition. Several developmental mechanisms have been proposed to explain the etiology of OEIS complex, and it is generally considered to be a defect early in caudal mesoderm development and ventral body wall closure. The goal of this study was to identify genetic aberrations in 13 patients with OEIS/EC using a combination of candidate gene analysis and microarray studies. Analysis of 14 candidate genes in combination with either high resolution SNP or oligonucleotide microarray did not reveal any disease-causing mutations, although novel variants were identified in five patients. To our knowledge, this is the most comprehensive genetic analysis of patients with OEIS complex to date. We conclude that OEIS is a complex disorder from an etiological perspective, likely involving a combination of genetic and environmental predispositions. Based on our data, OEIS complex is unlikely to be caused by a recurrent chromosomal aberration. (C) 2010 Wiley-Liss, Inc. |
英文关键词 | omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex cloacal exstrophy candidate gene analysis array CGH |
类型 | Article |
语种 | 英语 |
国家 | USA ; Netherlands |
收录类别 | SCI-E |
WOS记录号 | WOS:000285889100006 |
WOS关键词 | EXSTROPHY-EPISPADIAS COMPLEX ; ANUS-SPINAL DEFECTS ; CLOACAL EXSTROPHY ; MOUSE EMBRYO ; DESERT-HEDGEHOG ; CANDIDATE GENE ; BLADDER ; MUTATION ; ANOMALIES ; MALFORMATIONS |
WOS类目 | Genetics & Heredity |
WOS研究方向 | Genetics & Heredity |
资源类型 | 期刊论文 |
条目标识符 | http://119.78.100.177/qdio/handle/2XILL650/166979 |
作者单位 | 1.Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA; 2.Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA; 3.Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci, NL-6525 ED Nijmegen, Netherlands; 4.Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA; 5.Univ Michigan, Dept Urol, Ann Arbor, MI 48109 USA; 6.Univ Iowa Hosp & Clin, Dept Pediat, Div Med Genet, Iowa City, IA 52242 USA |
推荐引用方式 GB/T 7714 | Vlangos, Christopher N.,Siuniak, Amanda,Ackley, Todd,et al. Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication[J],2011,155A(1):38-49. |
APA | Vlangos, Christopher N..,Siuniak, Amanda.,Ackley, Todd.,van Bokhoven, Hans.,Veltman, Joris.,...&Keegan, Catherine E..(2011).Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication.AMERICAN JOURNAL OF MEDICAL GENETICS PART A,155A(1),38-49. |
MLA | Vlangos, Christopher N.,et al."Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication".AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A.1(2011):38-49. |
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