Clinical Trial: Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



Official Title: Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes

Brief Summary:

Primary objective:

  • assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS)

Secondary objective:

  • assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS
  • caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS.
  • evaluation of genotype-phenotype correlation in JS/CORS.