A Common Ancestral Asn242Ser Mutation in <b><i>TMEM67</i></b> Identified in Multiple Iranian Families with Joubert Syndrome

Abstract

We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. Therefore, screening for this variant should be considered for genetic testing in Iranian patients with JS. In addition, this finding is important for developing population-specific genetic testing in Iran.