Mutation spectrum of Joubert syndrome and related disorders among Arabs

Salma Ben-Salem, Aisha M. Al-Shamsi, Joseph G. Gleeson, Bassam R. Ali, Lihadh Al-Gazali

Research output: Contribution to journalReview articlepeer-review

30 Citations (Scopus)


Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, recurrent hyperventilation and intellectual disability. Most cases display a broad spectrum of additional features, including polydactyly, retinal dystrophy and renal abnormalities, which define different subtypes of JS-related disorders (JSRDs). To date, 23 genes have been shown to cause JSRDs, and although most of the identified genes encode proteins involved in cilia function or assembly, the molecular mechanisms associated with ciliary signaling remain enigmatic. Arab populations are ethnically diverse with high levels of consanguinity (20-60%) and a high prevalence of AR disorders. In addition, isolated communities with very-high levels of inbreeding and founder mutations are common. In this article, we review the 70 families reported thus far with JS and JSRDs that have been studied at the molecular level from all the Arabic countries and compile the mutations found. We show that JS and the related JSRDs are genetically heterogeneous in Arabs, with 53 mutations in 15 genes. Thirteen of these mutations are potentially founder mutations for the region.

Original languageEnglish
Article number14020
JournalHuman Genome Variation
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics


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