Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

ABSTRACT: Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Syndromic microcephaly-RHD was strongly reminiscent of clinical ciliopathies, relating to defects of the primary cilium, a signalling organelle present on the surface of many quiescent cells. KIF14 encodes a mitotic kinesin, which plays a key role at the midbody during cytokinesis and has not previously been shown to be involved in cilia-related functions. Here, we analysed four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. Our functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. Analysis in human fetal tiss

SUBMITTER: Reilly ML 

PROVIDER: S-EPMC6381319 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature