Joubert syndrome related disorders (JSRD)

Last revised by Ammar Ashraf on 14 Mar 2023

Joubert syndrome related disorders (JSRD), one of a growing group of related disorders known as ciliopathies, refers to the combination of Joubert syndrome and involvement of the liver, kidneys and/or eyes. Various combinations of these have been given their own syndromes, including 1,2:

Pathology

Unfortunately, the genetics of JSRD are complicated, with mutations involving 10 genes identified, but only accounting for 50% of these patients 1. Additionally, both allelic heterogeneity and locus heterogeneity occur 1

The genes involved are related to the subcellular organelle the primary cilium and basal body 3

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