VATER/VACTERL Association: Evidence for the Role of Genetic Factors

Molecular Syndromology

M. Ludwig¹  H. Reutter¹ 

[1] aInstitute of Human Genetics, Children's Hospital, University of Bonn, Bonn, Germany

关键词: Animal models;    Candidate genes;    Multiplex families;    Twin studies;    VATER/VACTERL association;   

DOI  :  10.1159/000345300

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown