Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.

ABSTRACT: Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene variants are significant genetic contributors to orofacial clefts. Although approximately three hundred IRF6 gene variants have been documented, their effects on protein functions remain difficult to interpret. Here, we demonstrate the protein functions of human IRF6 missense gene variants could be rapidly assessed in detail by their abilities to rescue the irf6 -/- phenotype in zebrafish through variant mRNA microinjections at the one-cell stage. The results revealed many missense variants pre

SUBMITTER: Li EB 

PROVIDER: S-EPMC5628943 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature