A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

ABSTRACT:

Background

Laterality in the vertebrate embryo is determined by left-right asymmetric gene expression driven by the flow of extraembryonic fluid across the embryonic node. Defects in these processes cause heterotaxy, the abnormal formation and arrangement of visceral organs that can range from complete inversion of symmetry to the selective misarrangement of organs. However, our understanding of the genetic causality for laterality defects in human beings remains relatively limited.

Methods

We performed whole exome sequencing in a consanguineous family with heterotaxia. To interrogate the pathogenic potential of the discovered variant, we used an in vivo system in which the potential of the candidate gene to induce L-R asymmetry was tested by transient suppression and CRISPR

SUBMITTER: Perles Z 

PROVIDER: S-EPMC4936483 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature