考虑VACTERL综合征的胚胎发病机制。
Considering the Embryopathogenesis of VACTERL Association.
作者信息
Stevenson R E, Hunter A G W
机构信息
Greenwood Genetic Center, Greenwood, S.C., USA.
出版信息
Mol Syndromol. 2013 Feb;4(1-2):7-15. doi: 10.1159/000346192.
Abstract
The nonrandom co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, recognized as the VACTERL association, has not been satisfactorily explained from either a causation or embryopathogenesis standpoint. Few familial cases have been identified and maternal diabetes is the only environmental influence implicated to date. Mutations in single genes have been found in a number of syndromes with one or more of the VACTERL malformations, but these syndromes usually have other features which distinguish them from the VACTERL association. Animal models have provided clues to molecular pathways that may be involved in the embryogenesis of the VACTERL structures. What is lacking is the systematic study of individual genes and pathways in well-composed cohorts of patients, which is now possible with high throughput molecular technologies.
摘要
脊柱、肛门直肠、心脏、气管食管、泌尿生殖及肢体畸形的非随机共现，即VACTERL综合征，从病因学或胚胎发病机制角度均未得到令人满意的解释。已识别出的家族性病例很少，且迄今为止，母体糖尿病是唯一被认为有影响的环境因素。在一些伴有一种或多种VACTERL畸形的综合征中发现了单基因突变，但这些综合征通常还有其他特征，使其有别于VACTERL综合征。动物模型为可能参与VACTERL结构胚胎发生的分子途径提供了线索。目前缺乏对精心挑选的患者队列中的单个基因和途径进行系统研究，而借助高通量分子技术现在已能够开展此类研究。
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