TMEM67 and Joubert syndrome: In another study in 2015, Rafiq et al reported (p.Phe2293Leufs*24) in two unrelated Pakistani families of Baloch population.77 On the other hand, for the recurrent variant in TMEM67, Dehghani et al found the same mutation among 12 Iranian nuclear families and suggested the variant as a founder mutation in the Iranian population.78 Our study supports this hypothesis and confirms the prioritization of this variant for the diagnosis of Iranian patients with Joubert syndrome.