Rare variants in GPKOW associated with multisystemic X-linked developmental disorder

A new study published in Genetics in Medicine identifies a novel disease-associated gene, GPKOW, that plays an important role in the development of the brain, eyes and other organ systems. Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions show that rare variants in GPKOW, a gene on the X-chromosome, cause a severe multisystemic syndrome resulting in restricted fetal growth, small head size (microcephaly) and severe brain and eye abnormalities.

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