Genetics Review: Joubert Syndrome.

Abstract

Joubert syndrome (JS) is a rare neurodevelopmental and multisystem ciliopathy that affects 1 in 80,000-10,0000 infants globally per year. Classic defects include hypoplasia of the cerebellar vermis, thickened cerebellar peduncles, and deepened interpeduncular fossa, which is regarded as a "molar tooth" sign. More than 30 genes have been associated with JS. Gene mutations disrupt normal ciliary development and function during early embryogenesis and cause a vast array of symptoms and pathologies. The purpose of this article is to investigate this rare and complex medical condition. We present up-to-date information on the genetics, pathophysiology, clinical manifestations, diagnostics, and management of JS. We also include a valuable perspective from a pediatric geneticist who specializes in JS to enhance our understanding of challenges associated with making a molecular diagnosis and emphasize the importance of early recognition and diagnostics as a means to optimize the quality of care.