New Mendelian disorder caused by mutations in PIK3C2A gene
Children with multiple-system abnormalities have been found to have improper phosphatidylinositol because of PIK3C2A mutations.
Three unrelated families had five individuals with symptoms: skeletal and neurological changes, cataracts, facial features, short height.
Genome sequencing pointed to the PIK3C2A disruption as a possible cause. The gene product participates in various pathways in many tissues. Its loss of function by significant truncation or even deactivation impaired development of the children.
The study found that the mutation influences cilia formation, which plays an important role in embryonic development. Disability to form cilia and PIK3C2A mutation leads to embryonic death in mice models. However, human PIK3C2A gene differs by structure and individuals carrying mutations can survive.
PIK3C2A disorder was not named but related to a group of ciliopathies.
More: “Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction”, D. Tiosano et al., 2018, doi:10.1101/488411.