CEP290
MIM.610142 12q21.32
Pathology
germline mutation in the CEP290 gene in
- Joubert syndrome type 5 (JBTS5 at 12q21.32) (MIM.610188)
- Senior-Loken syndrome type 6 (SLSN6) (MIM.610189)
- Leber congenital amaurosis (MIM.204000)
- Meckel Syndrome (#17564974#)
References
Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Merrer ML, Meiner V, Meir K, Menez F, Beaufrere AM, Francannet C, Tantau J, Sinico M, Dumez Y, Macdonald F, Munnich A, Lyonnet S, Gubler MC, Genin E, Johnson CA, Vekemans M, Encha-Razavi F, Attie-Bitach T. Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome. Am J Hum Genet. 2007 Jul;81(1):170-9. PMID: #17564974#
Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D’Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. PMID: #17564967#
Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007 Apr;28(4):416. PMID: #17345604#
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5. PMID: #16682970#
den Hollander, A. I.; Koenekoop, R. K.; Yzer, S.; Lopez, I.; Arends, M. L.; Voesenek, K. E. J.; Zonneveld, M. N.; Strom, T. M.; Meitinger, T.; Brunner, H. G.; Hoyng, C. B.; van den Born, L. I.; Rohrschneider, K.; Cremers, F. P. M. : Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79: 556-561, 2006. PubMed ID : #16909394#
Sayer, J. A.; Otto, E. A.; O’Toole, J. F.; Nurnberg, G.; Kennedy, M. A.; Becker, C.; Hennies, H. C.; Helou, J.; Attanasio, M.; Fausett, B. V.; Utsch, B.; Khanna, H.; and 30 others :The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genet. 38: 674-681, 2006. PubMed ID : #16682973#