FIGURE 1.

KIF4A protein is characterized by a N‐terminal motor domain (aa 9‐336), a coiled coil domain (aa 350‐999), and a C‐terminal globular domain. A C‐terminal region, overlapping the latter two, is responsible for interaction with PRC1 protein. A nuclear localization signal is found between aa 793 and 798 (The UniProt Consortium, 2019). In the lower part of the image, all the missense variants described in this series and by Gowans et al. (2019) are displayed (Gowans et al., 2019). Patient 4 splicing variant from our cohort (c.1674+1G>A) falls in intron 15, within exons coding for the coiled coil domain. The variant published by Willemsen et al. (2014), c.1489‐8_1490delins10, is a splicing variant falling in the intron–exon junction between intron 14 and exon 15, which was predicted to disrupt the acceptor splice site of exon 15, leading to skipping of exon 15 (within the coiled coil domain; Willemsen et al., 2014)