Reutter H, Ludwig M
Institute of Human Genetics, Children's Hospital, University of Bonn, Bonn, Germany ; Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany.
Mol Syndromol. 2013 Feb;4(1-2):16-9. doi: 10.1159/000345300.
The VATER/VACTERL association is typically defined by the presence of at least 3 of the following congenital malformations: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. The involvement of genetic factors in the development of this rare association is suggested by reports of familial occurrence, the increased prevalence of component features among first-degree relatives of affected individuals, high concordance rates among monozygotic twins, chromosomal (micro-)aberrations or single gene mutations in individuals with the VATER/VACTERL phenotype, as well as murine knock-out models. Despite substantial efforts over the past decade, the genetic etiology of the VATER/VACTERL association in most instances remains elusive. The application of new genomic technologies such as high-resolution copy number variation studies or next-generation exome sequencing might lead to the identification of some of these causes.
VATER/VACTERL联合征通常由以下至少3种先天性畸形定义：椎体异常、肛门闭锁、心脏畸形、气管食管瘘、肾脏异常和肢体异常。家族性发病的报告、受累个体一级亲属中组成特征的患病率增加、同卵双胞胎的高一致性率、具有VATER/VACTERL表型个体的染色体（微）畸变或单基因突变以及小鼠基因敲除模型表明，遗传因素参与了这种罕见联合征的发生发展。尽管在过去十年中付出了巨大努力，但在大多数情况下，VATER/VACTERL联合征的遗传病因仍然不明。应用新的基因组技术，如高分辨率拷贝数变异研究或新一代外显子组测序，可能会找出其中一些病因。
