 Joubert syndrome and cerebello-oculo-renal syndromes JSCORS are autosomal recessive conditions associated with a high risk of recurrence for further pregnancies 25. In 2004 mutations in AHI1 gene Abelson helper integration site gene were identified in 7-11 JS but the disease is caracterized by a wide genetic heterogeneity. At least five others genes are involved in JSCORS : NPHP1, which homozygous deletions are responsible for a small percentage of JS 2 and more recently CEP290 gene which exact mutations prevalence remained to be evaluated. 