AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report

Abstract

Abstract This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities.

Keywords

• AHI1 gene
• Joubert syndrome
• mutation