Overview
Gene (OMIM no.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Visual function |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Hsiao, Y.-C., Tong, Z.J., Westfall, J.E., Ault, J.G., Page-Mccaw, P.S. & Ferland, R.J. (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Human Molecular Genetics, 18 (20), pp.3926–3941
- Lagier-Tourenne C, Boltshauser E, Breivik N, et al. Homozygosity mapping of a third Joubert syndrome locus to 6q23. J Med Genet. 2004;41(4):273-277
- Valente, E.M., Brancati, F., Silhavy, J.L., Castori, M., Marsh, S.E., Barrano, G., Bertini, E., Boltshauser, E., Zaki, M.S., Abdel-Aleem, A., Abdel-Salam, G.M.H., Bellacchio, E., Battini, R., Cruse, R.P., Dobyns, W.B., Krishnamoorthy, K.S., Lagier-Tourenne, C., Magee, A., Pascual-Castroviejo, I., Salpietro, C.D., Sarco, D., Dallapiccola, B. & Gleeson, J.G. (2006) AHI1gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology, 59 (3), pp.527–534
- Valente EM, Marsh SE, Castori M, et al. Distinguishing the four genetic causes of Jouberts syndrome-related disorders [published correction appears in Ann Neurol. 2005 Jun;57(6):934]. Ann Neurol. 2005;57(4):513-519
- Utsch B, Sayer JA, Attanasio M, et al. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol. 2006;21(1):32-35