AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report |
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| Authors: | Mostafa Neissi,Hadideh Mabudi,Javad Mohammadi‐ Asl |
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| Affiliation: | 1. Department of Genetics, Khuzestan Science and Research Branch, Islamic Azad University, Ahvaz Iran ; 2. Department of Genetics, Ahvaz Branch, Islamic Azad University, Ahvaz Iran ; 3. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz Iran |
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| 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. |
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| Keywords: | AHI1 gene, Joubert syndrome, mutation |
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