Researchers discover first gene linked to missing spleen in newborns

Researchers at Weill Cornell Medical College and Rockefeller University have identified the first gene to be linked to a rare condition in which babies are born without a spleen. As a result, those children are at risk of dying from infections they cannot defend themselves against. The gene, Nkx2.5, was shown to regulate genesis of the spleen during early development in mice.
The study, published in Developmental Cell, raises the hope that a simple genetic screening test for Nkx2.5 mutations can be developed that will alert parents that their developing child may be missing the organ, which could then be confirmed with a diagnostic scan. Because defense against infections depends, in part, on the spleen, children known to be born without the organ require treatment with a regimen of antibiotic therapy throughout their lives.