Molecular and clinical heterogeneity in an Iranian case series of Joubert syndrome.

This study expands the mutational landscape of joubert syndrome in the Iranian population and underscores the utility of whole-exome sequencing as a first-tier diagnostic tool for joubert syndrome and related ciliopathies.

The high rate of consanguinity in this cohort likely contributes to the enrichment of autosomal recessive forms.

Further functional studies are warranted to clarify the pathogenicity of the numerous variants of uncertain significance identified, which will improve genetic counseling and prenatal decision-making for affected families.