Joubert syndrome related disorders (JSRD)
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:
- Varadi-Papp syndrome (same as oral-facial-digital syndrome type VI)
- Dekaban-Arima syndrome
- COACH syndrome
- Senior-Loken syndrome
- Joubert polymicrogyria syndrome
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.
- 1. Poretti A, Huisman TA, Scheer I et-al. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011;32 (8): 1459-63. doi:10.3174/ajnr.A2517 - Pubmed citation
- 2. Harbert MJ, Gleeson JG. Classifying a novel brain malformation. Brain. 2007;130 (Pt): 2242-4. doi:10.1093/brain/awm194 - Pubmed citation
- 3. Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009;16 (3): 143-54. doi:10.1016/j.spen.2009.06.002 - Free text at pubmed - Pubmed citation