Abstract
Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MPS) 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.
| Original language | English |
|---|---|
| Pages (from-to) | 104-113 |
| Number of pages | 10 |
| Journal | American Journal of Human Genetics |
| Volume | 81 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jul 2007 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. / Brancati, Francesco; Barrano, Giuseppe; Silhavy, Jennifer L.; Marsh, Sarah E.; Travaglini, Lorena; Bielas, Stephanie L.; Amorini, Maria; Zablocka, Dominika; Kayserili, Hulya; Al-Gazali, Lihadh; Bertini, Enrico; Boltshauser, Eugen; D'Hooghe, Marc; Fazzi, Elisa; Fenerci, Elif Y.; Hennekam, Raoul C.M.; Kiss, Andrea; Lees, Melissa M.; Marco, Elysa; Phadke, Shubha R.; Rigoli, Luciana; Romano, Stephane; Salpietro, Carmelo D.; Sherr, Elliott H.; Signorini, Sabrina; Stromme, Petter; Stuart, Bernard; Sztriha, Laszlo; Viskochil, David H.; Yuksel, Adnan; Dallapiccola, Bruno; Valente, Enza Maria; Gleeson, Joseph G.; Grattan-Smith, Padraic; Leventer, Richard; Janecke, Andreas; Van Coster, Rudy; Dias, Karin; Moco, Carla; Moreira, Ana; Chong, Ae Kim; Maegawa, Gustavo; Abdel-Salam, Ghada M.H.; Abdel-Aleem, Alice; Zaki, Maha S.; Marti, Itxaso; Quijano-Roy, Susana; De Lonlay, Pascale; Verloes, Alain; Touraine, Renaud; Koenig, Michel; Lagier-Tourenne, Clotilde; Messer, Jean; Philippi, Heike; Tzeli, Sofia Kitsiou; Halldorsson, Saevar; Johannsdottir, Jonina; Ludvigsson, Peter; Magee, Alex; Lev, Dorit; Michelson, Marina; Ben-Zeev, Bruria; Fischetto, Rita; Gentile, Mattia; Battaglia, Silvia; Giordano, Lucio; Boccone, Loredana; Ruggieri, Martino; Bigoni, Stefania; Ferlini, Alessandra; Donati, Maria Alice; Procopio, Elena; Caridi, Gianluca; Faravelli, Francesca; Ghiggeri, Gianmarco; Briuglia, Silvana; Tortorella, Gaetano; D'Arrigo, Stefano; Pantaleoni, Chiara; Riva, Daria; Uziel, Graziella; Lavercla, Anna Maria; Permunian, Alberto; Bova, Stefania; Battini, Roberta; Cilio, Maria Roberta; Di Sabato, Marilù; Emma, Francesco; Leuzzi, Vincenzo; Parisi, Pasquale; Simonati, Alessandro; Al-Tawari, Asma A.; Bastaki, Laila; Aqeel, Ahmad; De Jong, Mirjam M.; Koul, Roshan; Rajab, Anna; Azam, Matloob; Barbot, Clara; Rodriguez, Berta; Pascual-Castroviejo, Ignacio; Comu, Sinan; Akcakus, Mustafa; Nicholl, David; Woods, C. Geoffrey; Bennett, Christopher; Hurst, Jane; Walsh, Christopher A.; Bernes, Saunder; Sanchez, Henry; Clark, Aldon E.; Donahue, Clement; Hahn, Jin; Sanger, Terence D.; Gallager, Tomas E.; Dobyns, William B.; Daugherty, Cynthia; Krishnamoorthy, Kalpathy S.; Sarco, Dean; McKanna, Trudy; Milisa, Joanne; Chung, Wendy K.; De Vivo, Darryl C.; Raynes, Hillary; Schubert, Romaine; Seward, Alison; Brooks, David G.; Goldstein, Amy; Caldwell, James; Finsecke, Eco; Maria, Bernard L.; Holden, Kenton; Cruse, Robert P.; Swoboda, Kathryn J.
In: American Journal of Human Genetics, Vol. 81, No. 1, 07.2007, p. 104-113.Research output: Contribution to journal › Article › peer-review
}
TY - JOUR
T1 - CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
AU - Brancati, Francesco
AU - Barrano, Giuseppe
AU - Silhavy, Jennifer L.
AU - Marsh, Sarah E.
AU - Travaglini, Lorena
AU - Bielas, Stephanie L.
AU - Amorini, Maria
AU - Zablocka, Dominika
AU - Kayserili, Hulya
AU - Al-Gazali, Lihadh
AU - Bertini, Enrico
AU - Boltshauser, Eugen
AU - D'Hooghe, Marc
AU - Fazzi, Elisa
AU - Fenerci, Elif Y.
AU - Hennekam, Raoul C.M.
AU - Kiss, Andrea
AU - Lees, Melissa M.
AU - Marco, Elysa
AU - Phadke, Shubha R.
AU - Rigoli, Luciana
AU - Romano, Stephane
AU - Salpietro, Carmelo D.
AU - Sherr, Elliott H.
AU - Signorini, Sabrina
AU - Stromme, Petter
AU - Stuart, Bernard
AU - Sztriha, Laszlo
AU - Viskochil, David H.
AU - Yuksel, Adnan
AU - Dallapiccola, Bruno
AU - Valente, Enza Maria
AU - Gleeson, Joseph G.
AU - Grattan-Smith, Padraic
AU - Leventer, Richard
AU - Janecke, Andreas
AU - Van Coster, Rudy
AU - Dias, Karin
AU - Moco, Carla
AU - Moreira, Ana
AU - Chong, Ae Kim
AU - Maegawa, Gustavo
AU - Abdel-Salam, Ghada M.H.
AU - Abdel-Aleem, Alice
AU - Zaki, Maha S.
AU - Marti, Itxaso
AU - Quijano-Roy, Susana
AU - De Lonlay, Pascale
AU - Verloes, Alain
AU - Touraine, Renaud
AU - Koenig, Michel
AU - Lagier-Tourenne, Clotilde
AU - Messer, Jean
AU - Philippi, Heike
AU - Tzeli, Sofia Kitsiou
AU - Halldorsson, Saevar
AU - Johannsdottir, Jonina
AU - Ludvigsson, Peter
AU - Magee, Alex
AU - Lev, Dorit
AU - Michelson, Marina
AU - Ben-Zeev, Bruria
AU - Fischetto, Rita
AU - Gentile, Mattia
AU - Battaglia, Silvia
AU - Giordano, Lucio
AU - Boccone, Loredana
AU - Ruggieri, Martino
AU - Bigoni, Stefania
AU - Ferlini, Alessandra
AU - Donati, Maria Alice
AU - Procopio, Elena
AU - Caridi, Gianluca
AU - Faravelli, Francesca
AU - Ghiggeri, Gianmarco
AU - Briuglia, Silvana
AU - Tortorella, Gaetano
AU - D'Arrigo, Stefano
AU - Pantaleoni, Chiara
AU - Riva, Daria
AU - Uziel, Graziella
AU - Lavercla, Anna Maria
AU - Permunian, Alberto
AU - Bova, Stefania
AU - Battini, Roberta
AU - Cilio, Maria Roberta
AU - Di Sabato, Marilù
AU - Emma, Francesco
AU - Leuzzi, Vincenzo
AU - Parisi, Pasquale
AU - Simonati, Alessandro
AU - Al-Tawari, Asma A.
AU - Bastaki, Laila
AU - Aqeel, Ahmad
AU - De Jong, Mirjam M.
AU - Koul, Roshan
AU - Rajab, Anna
AU - Azam, Matloob
AU - Barbot, Clara
AU - Rodriguez, Berta
AU - Pascual-Castroviejo, Ignacio
AU - Comu, Sinan
AU - Akcakus, Mustafa
AU - Nicholl, David
AU - Woods, C. Geoffrey
AU - Bennett, Christopher
AU - Hurst, Jane
AU - Walsh, Christopher A.
AU - Bernes, Saunder
AU - Sanchez, Henry
AU - Clark, Aldon E.
AU - Donahue, Clement
AU - Hahn, Jin
AU - Sanger, Terence D.
AU - Gallager, Tomas E.
AU - Dobyns, William B.
AU - Daugherty, Cynthia
AU - Krishnamoorthy, Kalpathy S.
AU - Sarco, Dean
AU - McKanna, Trudy
AU - Milisa, Joanne
AU - Chung, Wendy K.
AU - De Vivo, Darryl C.
AU - Raynes, Hillary
AU - Schubert, Romaine
AU - Seward, Alison
AU - Brooks, David G.
AU - Goldstein, Amy
AU - Caldwell, James
AU - Finsecke, Eco
AU - Maria, Bernard L.
AU - Holden, Kenton
AU - Cruse, Robert P.
AU - Swoboda, Kathryn J.
N1 - Funding Information: This work was supported by grants from the U.S. National Institute of Neurological Disease and Stroke, the Italian Ministry of Health (Ricerca Corrente 2007; Ricerca Finalizzata 2005 Progetto Malattie Rare grant number 526/A36), the Fondazione Pierfranco e Luisa Mariani Organizzazione Non Lucrativa di Utilita Sociale, the March of Dimes, the Burroughs Wellcome Fund Award in Translational Research, and the National Institutes of Health.
PY - 2007/7
Y1 - 2007/7
N2 - Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MPS) 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.
AB - Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MPS) 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.
UR - http://www.scopus.com/inward/record.url?scp=34347225615&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34347225615&partnerID=8YFLogxK
U2 - 10.1086/519026
DO - 10.1086/519026
M3 - Article
C2 - 17564967
AN - SCOPUS:34347225615
VL - 81
SP - 104
EP - 113
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 1
ER -