Joubert syndrome related disorders (JSRD)

A.Prof Frank Gaillard et al.

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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Article information

rID: 29875
Synonyms or Alternate Spellings:
  • Joubert syndrome related disorders
  • JSRD

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