التفاصيل البيبلوغرافية
العنوان:
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
المؤلفون:
Brancati, F. , Barrano, G. , Silhavy, J. L. , Marsh, S. E. , Travaglini, L. , Bielas, S. L. , Amorini, M. , Zablocka, D. , Kayserili, H. , Al-Gazali, L. , Bertini, E. , Boltshauser, E. , D'Hooghe, M. , Fazzi, Eleonora , Fenerci, E. Y. , Hennekam, R. C. M. , Kiss, A. , Lees, M. M. , Marco, E. , Phadke, S. R. , Rigoli, L. , Romano, S. , Salpietro, C. D. , Sherr, E. H. , Signorini, S. , Stromme, P. , Stuart, B. , Sztriha, L. , Viskochil, D. H. , Yuksel, A. , Dallapiccola, B. , Valente, E. M. , Gleeson, J. G. , Grattan-Smith, P. , Leventer, R. , Janecke, A. , Van Coster, R. , Dias, K. , Moco, C. , MOREIRA DA SILVA, CLAUDIA ALEXANDRA , Chong, A. K. , Maegawa, G. , Abdel-Salam, G. M. H. , Abdel-Aleem, A. , Zaki, M. S. , Marti, I. , Quijano-Roy, S. , De Lonlay, P. , Verloes, A. , Touraine, R. , Koenig, M. , Lagier-Tourenne, C. , Messer, J. , Philippi, H. , Tzeli, S. K. , Halldorsson, S. , Johannsdottir, J. , Ludvigsson, P. , Magee, A. , Lev, D. , Michelson, M. , Ben-Zeev, B. , Fischetto, R. , Gentile, M. , Battaglia, S. , Giordano, L. , Boccone, L. , Ruggieri, M. , Bigoni, S. , Ferlini, A. , Donati, M. A. , Procopio, E. , Caridi, G. , Faravelli, F. , Ghiggeri, G. , Briuglia, S. , Tortorella, G. , D'Arrigo, S. , Pantaleoni, C. , Riva, D. , Uziel, G. , Lavercla, A. M. , Permunian, A. , Bova, S. , Battini, Roberta , Cilio, M. R. , DI SABATO, Manuela , Emma, F. , Leuzzi, V. , Parisi, P. , Simonati, A. , Al-Tawari, A. A. , Bastaki, L. , Aqeel, A. , De Jong, M. M. , Koul, R. , Rajab, A. , Azam, M. , Barbot, C. , Rodriguez, B. , Pascual-Castroviejo, I. , Comu, S. , Akcakus, M. , Nicholl, D. , Woods, C. G. , Bennett, C. , Hurst, J. , Walsh, C. A. , Bernes, S. , Sanchez, H. , Clark, A. E. , Donahue, C. , Hahn, J. , Sanger, T. D. , Gallager, T. E. , Dobyns, W. B. , Daugherty, C. , Krishnamoorthy, K. S. , Sarco, D. , Mckanna, T. , Milisa, J. , Chung, W. K. , De Vivo, D. C. , Raynes, H. , Schubert, R. , Seward, A. , Brooks, D. G. , Goldstein, A. , Caldwell, J. , Finsecke, E. , Maria, B. L. , Holden, K. , Cruse, R. P. , Swoboda, K. J.
المساهمون:
ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics
المصدر:
American journal of human genetics, 81(1), 104-113. Cell Press
سنة النشر:
2007
مصطلحات موضوعية:
Male , Pathology , DNA Mutational Analysis , Cell Cycle Proteins , medicine.disease_cause , Ciliopathies , Ocular Motility Disorders , Cohort Studies , Joubert syndrome–related disorders , CEP290 , Genetics(clinical) , Child , Genetics (clinical) , Genetics , Mutation , Brain , Syndrome , Phenotype , Magnetic Resonance Imaging , Kidney Diseases , Molar , Neoplasm Proteins , Child, Preschool , Abnormalities, Multiple , Adolescent , Adult , Antigens, Neoplasm , Female , Humans , Abnormalities , Multiple , medicine.medical_specialty , Biology , Article , Joubert syndrome , Central nervous system disease , medicine , Antigens , Preschool , Genetic heterogeneity , medicine.disease , Cytoskeletal Proteins , Situs inversus , Neoplasm
الوصف:
Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Löken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.
اللغة:
English
تدمد:
0002-9297
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20692bf53f4682fff08adc771e37911 http://hdl.handle.net/11562/338013
Rights:
OPEN
رقم الانضمام:
edsair.doi.dedup.....f20692bf53f4682fff08adc771e37911
قاعدة البيانات:
OpenAIRE