GPKOW identified as a novel cause of a multisystemic X-linked disorder

We report three pediatric patients with a novel multisystemic X-linked disorder associated with late frameshift variants in the last coding exon of GPKOW. We show that the gene play important roles development using Drosophila, and further demonstrate that the variants identified in patients are hypomorphic alleles. While a rare splicing variant this gene had been reported in one consanguineous family as a likely cause of 'male-lethal microcephaly with intrauterine growth restriction', our study significantly expands the phenotypes caused by rare variants in this gene.