Parisi et al. reported that 11 % of individuals with JBTS had AHI1 mutations [10], Kroes et al. revealed that 16 % of patients with JBTS from the Netherlands had mutations in AHI1 [11], whereas Valente et al. identified mutations in this gene in 7.3 % of individuals in a cohort of patients with JSRDs [12]. Here, AHI1 is linked to Joubert syndrome.