Abstract
Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'(MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (∼12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (
| Original language | English |
|---|---|
| Pages (from-to) | 164-170 |
| Number of pages | 7 |
| Journal | Clinical Genetics |
| Volume | 74 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Aug 2008 |
| Externally published | Yes |
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Keywords
- Joubert syndrome-related disorders
- Molar tooth sign
- Nephronophthisis
- RPGRIP1L
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. / Brancati, F.; Travaglini, L.; Zablocka, D.; Boltshauser, E.; Accorsi, P.; Montagna, G.; Silhavy, J. L.; Barrano, G.; Bertini, E.; Emma, F.; Rigoli, L.; Leventer, Richard; Grattan-Smith, Padraic; Janecke, Andreas; D'Hooghe, Marc; Van Coster, Rudy; Dias, Karin; Moco, Carla; Moreira, Ana; Kim, Chong Ae; Maegawa, Gustavo; Abdel-Salam, Ghada M H; Abdel-Aleem, Alice; Zaki, Maha S.; Marti, Itxaso; Quijano-Roy, Susana; de Lonlay, Pascale; Romano, Stephane; Verloes, Alain; Touraine, Renaud; Koenig, Michel; Lagier-Tourenne, Clotilde; Messer, Jean; Philippi, Heike; Tzeli, Sofia Kitsiou; Halldorsson, Saevar; Johannsdottir, Jonina; Ludvigsson, Peter; Phadke, Shubha R.; Stuart, Bernard; Magee, Alex; Lev, Dorit; Michelson, Marina; Ben-Zeev, Bruria; Fischetto, Rita; Gentile, Mattia; Battaglia, Silvia; Giordano, Lucio; Pinelli, Lorenzo; Boccone, Loredana; Ruggieri, Martino; Bigoni, Stefania; Ferlini, Alessandra; Donati, Maria Alice; Procopio, Elena; Caridi, Gianluca; Faravelli, Francesca; Ghiggeri, Gianmarco; Briuglia, Silvana; Salpietro, Carmelo D.; Tortorella, Gaetano; D'Arrigo, Stefano; Pantaleoni, Chiara; Riva, Daria; Uziel, Graziella; Laverda, Anna Maria; Permunian, Alberto; Bova, Stefania; Battini, Roberta; Cilio, Maria Roberta; Di Sabato, Marilu; Leuzzi, Vincenzo; Parisi, Pasquale; Simonati, Alessandro; Al-Tawari, Asma A.; Bastaki, Laila; Ahmad, [No Value]; de Jong, Mirjam M.; Koul, Roshan; Rajab, Anna; Azam, Matloob; Barbot, Clara; Rodriguez, Berta; Pascual-Castroviejo, Ignacio; Kayserili, Hulya; Comu, Sinan; Akcakus, Mustafa; Al Gazali, Lihadh; Sztriha, Laszlo; Nicholl, David; Woods, C. Geoffrey; Bennett, Christopher; Hurst, Jane; Hennekam, Raoul; Lees, Melissa; Bernes, Saunder; Sanchez, Henry; Clark, Aldon E.; DeMarco, Elysa; DeMarco, Elysa; Donahue, Clement; Sherr, Elliot; Sanger, Terence D.; Gallager, Tomas E.; Dobyns, William B.; Daugherty, Cynthia; Krishnamoorthy, Kalpathy S.; Sarco, Dean; Walsh, Christopher A.; 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.; Viskochil, Dave; Dallapiccola, B.; Gleeson, J. G.; Valente, Enza Maria.
In: Clinical Genetics, Vol. 74, No. 2, 08.2008, p. 164-170.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
AU - Brancati, F.
AU - Travaglini, L.
AU - Zablocka, D.
AU - Boltshauser, E.
AU - Accorsi, P.
AU - Montagna, G.
AU - Silhavy, J. L.
AU - Barrano, G.
AU - Bertini, E.
AU - Emma, F.
AU - Rigoli, L.
AU - Leventer, Richard
AU - Grattan-Smith, Padraic
AU - Janecke, Andreas
AU - D'Hooghe, Marc
AU - Van Coster, Rudy
AU - Dias, Karin
AU - Moco, Carla
AU - Moreira, Ana
AU - Kim, Chong Ae
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 - Romano, Stephane
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 - Phadke, Shubha R.
AU - Stuart, Bernard
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 - Pinelli, Lorenzo
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 - Salpietro, Carmelo D.
AU - Tortorella, Gaetano
AU - D'Arrigo, Stefano
AU - Pantaleoni, Chiara
AU - Riva, Daria
AU - Uziel, Graziella
AU - Laverda, Anna Maria
AU - Permunian, Alberto
AU - Bova, Stefania
AU - Battini, Roberta
AU - Cilio, Maria Roberta
AU - Di Sabato, Marilu
AU - Leuzzi, Vincenzo
AU - Parisi, Pasquale
AU - Simonati, Alessandro
AU - Al-Tawari, Asma A.
AU - Bastaki, Laila
AU - Ahmad, [No Value]
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 - Kayserili, Hulya
AU - Comu, Sinan
AU - Akcakus, Mustafa
AU - Al Gazali, Lihadh
AU - Sztriha, Laszlo
AU - Nicholl, David
AU - Woods, C. Geoffrey
AU - Bennett, Christopher
AU - Hurst, Jane
AU - Hennekam, Raoul
AU - Lees, Melissa
AU - Bernes, Saunder
AU - Sanchez, Henry
AU - Clark, Aldon E.
AU - DeMarco, Elysa
AU - DeMarco, Elysa
AU - Donahue, Clement
AU - Sherr, Elliot
AU - Sanger, Terence D.
AU - Gallager, Tomas E.
AU - Dobyns, William B.
AU - Daugherty, Cynthia
AU - Krishnamoorthy, Kalpathy S.
AU - Sarco, Dean
AU - Walsh, Christopher A.
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.
AU - Viskochil, Dave
AU - Dallapiccola, B.
AU - Gleeson, J. G.
AU - Valente, Enza Maria
PY - 2008/8
Y1 - 2008/8
N2 - Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'(MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (∼12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (
AB - Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign'(MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation (∼12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (
KW - Joubert syndrome-related disorders
KW - Molar tooth sign
KW - Nephronophthisis
KW - RPGRIP1L
UR - http://www.scopus.com/inward/record.url?scp=47149084412&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=47149084412&partnerID=8YFLogxK
U2 - 10.1111/j.1399-0004.2008.01047.x
DO - 10.1111/j.1399-0004.2008.01047.x
M3 - Article
C2 - 18565097
AN - SCOPUS:47149084412
VL - 74
SP - 164
EP - 170
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 2
ER -