Expanding the Phenotypic Spectrum of PRKD1 Gain-of-Function Syndrome: Congenital Heart Disease, Bilateral Carotid Dissections, and Ectodermal Dysplasia in an Adult Patient

Description

Pedram Kharaziha, Klara Junker, Josefine Åhsberg, and Antheia Kissopoulou report an adult whose gene disorder showed a possible new feature, in a 2026 case report. The disorder stems from overactive copies of a gene called PRKD1. Known features include heart defects from birth, skin and hair problems, limb differences, and learning difficulties. Blood vessel problems are poorly charted. Their patient carried a new variant in the gene, found at age thirty-five.

He had heart disease from childhood, plus hearing loss, infertility, and learning difficulties. As an adult he suffered tears in both neck arteries and mild widening of the aorta. Testing found no other faulty gene for vessel or connective tissue disease. The variant is absent or very rare in population data. Lab evidence supports that it overactivates the gene. The authors caution that one case cannot prove the vessel link.

Catalog record

Source: https://europepmc.org/articles/PMC13606742