What is it about?
Ellis-van Creveld (EVC) syndrome is a ciliopathy caused by defective EVC-EVC2 complex, whose localization is regulated by EFCAB7. We previously found a novel mutation of EFCAB7 in a family with EVC syndrome, in addition to EVC mutation. Here we show that the mutated EFCAB7 enhances the binding of EVC2 and EFCAB7, as well as the expression of EVC2.
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Why is it important?
Our findings provide additional evidence for the role of EFCAB7 as a modifier gene in EVC.
Perspectives
Rare variants of modifier genes, such as EFCAB7, may account for the phenotypic variability in EVC syndrome and other inherited disorders, at least in part.
Masashi Mizuguchi
The University of Tokyo
Read the Original
This page is a summary of: Novel mutation in EFCAB7
alters expression and interaction of Ellis-van Creveld ciliary proteins, Congenital Anomalies, June 2018, Wiley,
DOI: 10.1111/cga.12291.
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