RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

F. Brancati, L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, Richard Leventer, Padraic Grattan-Smith, Andreas Janecke, Marc D'Hooghe, Rudy Van Coster, Karin Dias, Carla Moco, Ana Moreira, Chong Ae Kim & 108 others Gustavo Maegawa, Ghada M H Abdel-Salam, Alice Abdel-Aleem, Maha S. Zaki, Itxaso Marti, Susana Quijano-Roy, Pascale de Lonlay, Stephane Romano, Alain Verloes, Renaud Touraine, Michel Koenig, Clotilde Lagier-Tourenne, Jean Messer, Heike Philippi, Sofia Kitsiou Tzeli, Saevar Halldorsson, Jonina Johannsdottir, Peter Ludvigsson, Shubha R. Phadke, Bernard Stuart, Alex Magee, Dorit Lev, Marina Michelson, Bruria Ben-Zeev, Rita Fischetto, Mattia Gentile, Silvia Battaglia, Lucio Giordano, Lorenzo Pinelli, Loredana Boccone, Martino Ruggieri, Stefania Bigoni, Alessandra Ferlini, Maria Alice Donati, Elena Procopio, Gianluca Caridi, Francesca Faravelli, Gianmarco Ghiggeri, Silvana Briuglia, Carmelo D. Salpietro, Gaetano Tortorella, Stefano D'Arrigo, Chiara Pantaleoni, Daria Riva, Graziella Uziel, Anna Maria Laverda, Alberto Permunian, Stefania Bova, Roberta Battini, Maria Roberta Cilio, Marilu Di Sabato, Vincenzo Leuzzi, Pasquale Parisi, Alessandro Simonati, Asma A. Al-Tawari, Laila Bastaki, [No Value] Ahmad, Mirjam M. de Jong, Roshan Koul, Anna Rajab, Matloob Azam, Clara Barbot, Berta Rodriguez, Ignacio Pascual-Castroviejo, Hulya Kayserili, Sinan Comu, Mustafa Akcakus, Lihadh Al Gazali, Laszlo Sztriha, David Nicholl, C. Geoffrey Woods, Christopher Bennett, Jane Hurst, Raoul Hennekam, Melissa Lees, Saunder Bernes, Henry Sanchez, Aldon E. Clark, Elysa DeMarco, Elysa DeMarco, Clement Donahue, Elliot Sherr, Terence D. Sanger, Tomas E. Gallager, William B. Dobyns, Cynthia Daugherty, Kalpathy S. Krishnamoorthy, Dean Sarco, Christopher A. Walsh, Trudy McKanna, Joanne Milisa, Wendy K. Chung, Darryl C. De Vivo, Hillary Raynes, Romaine Schubert, Alison Seward, David G. Brooks, Amy Goldstein, James Caldwell, Eco Finsecke, Bernard L. Maria, Kenton Holden, Robert P. Cruse, Kathryn J. Swoboda, Dave Viskochil, B. Dallapiccola, J. G. Gleeson, Enza Maria Valente

Research output: Contribution to journalArticle

43 Citations (Scopus)

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 languageEnglish
Pages (from-to)164-170
Number of pages7
JournalClinical Genetics
Volume74
Issue number2
DOIs
Publication statusPublished - Aug 2008
Externally publishedYes

Fingerprint

Phenotype
Kidney
Mutation
Exons
Tooth
Brain Stem
Joubert syndrome 1
Genes

Keywords

  • Joubert syndrome-related disorders
  • Molar tooth sign
  • Nephronophthisis
  • RPGRIP1L

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., ... Valente, E. M. (2008). RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical Genetics, 74(2), 164-170. https://doi.org/10.1111/j.1399-0004.2008.01047.x

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 journalArticle

Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Leventer, R, Grattan-Smith, P, Janecke, A, D'Hooghe, M, Van Coster, R, Dias, K, Moco, C, Moreira, A, Kim, CA, Maegawa, G, Abdel-Salam, GMH, Abdel-Aleem, A, Zaki, MS, Marti, I, Quijano-Roy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Lagier-Tourenne, C, Messer, J, Philippi, H, Tzeli, SK, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, SR, Stuart, B, Magee, A, Lev, D, Michelson, M, Ben-Zeev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Pinelli, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, MA, Procopio, E, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Salpietro, CD, Tortorella, G, D'Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, AM, Permunian, A, Bova, S, Battini, R, Cilio, MR, Di Sabato, M, Leuzzi, V, Parisi, P, Simonati, A, Al-Tawari, AA, Bastaki, L, Ahmad, NV, de Jong, MM, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual-Castroviejo, I, Kayserili, H, Comu, S, Akcakus, M, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, CG, Bennett, C, Hurst, J, Hennekam, R, Lees, M, Bernes, S, Sanchez, H, Clark, AE, DeMarco, E, DeMarco, E, Donahue, C, Sherr, E, Sanger, TD, Gallager, TE, Dobyns, WB, Daugherty, C, Krishnamoorthy, KS, Sarco, D, Walsh, CA, McKanna, T, Milisa, J, Chung, WK, De Vivo, DC, Raynes, H, Schubert, R, Seward, A, Brooks, DG, Goldstein, A, Caldwell, J, Finsecke, E, Maria, BL, Holden, K, Cruse, RP, Swoboda, KJ, Viskochil, D, Dallapiccola, B, Gleeson, JG & Valente, EM 2008, 'RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders', Clinical Genetics, vol. 74, no. 2, pp. 164-170. https://doi.org/10.1111/j.1399-0004.2008.01047.x
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. / RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. In: Clinical Genetics. 2008 ; Vol. 74, No. 2. pp. 164-170.
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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 (",
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author = "F. Brancati and L. Travaglini and D. Zablocka and E. Boltshauser and P. Accorsi and G. Montagna and Silhavy, {J. L.} and G. Barrano and E. Bertini and F. Emma and L. Rigoli and Richard Leventer and Padraic Grattan-Smith and Andreas Janecke and Marc D'Hooghe and {Van Coster}, Rudy and Karin Dias and Carla Moco and Ana Moreira and Kim, {Chong Ae} and Gustavo Maegawa and Abdel-Salam, {Ghada M H} and Alice Abdel-Aleem and Zaki, {Maha S.} and Itxaso Marti and Susana Quijano-Roy and {de Lonlay}, Pascale and Stephane Romano and Alain Verloes and Renaud Touraine and Michel Koenig and Clotilde Lagier-Tourenne and Jean Messer and Heike Philippi and Tzeli, {Sofia Kitsiou} and Saevar Halldorsson and Jonina Johannsdottir and Peter Ludvigsson and Phadke, {Shubha R.} and Bernard Stuart and Alex Magee and Dorit Lev and Marina Michelson and Bruria Ben-Zeev and Rita Fischetto and Mattia Gentile and Silvia Battaglia and Lucio Giordano and Lorenzo Pinelli and Loredana Boccone and Martino Ruggieri and Stefania Bigoni and Alessandra Ferlini and Donati, {Maria Alice} and Elena Procopio and Gianluca Caridi and Francesca Faravelli and Gianmarco Ghiggeri and Silvana Briuglia and Salpietro, {Carmelo D.} and Gaetano Tortorella and Stefano D'Arrigo and Chiara Pantaleoni and Daria Riva and Graziella Uziel and Laverda, {Anna Maria} and Alberto Permunian and Stefania Bova and Roberta Battini and Cilio, {Maria Roberta} and {Di Sabato}, Marilu and Vincenzo Leuzzi and Pasquale Parisi and Alessandro Simonati and Al-Tawari, {Asma A.} and Laila Bastaki and Ahmad, {[No Value]} and {de Jong}, {Mirjam M.} and Roshan Koul and Anna Rajab and Matloob Azam and Clara Barbot and Berta Rodriguez and Ignacio Pascual-Castroviejo and Hulya Kayserili and Sinan Comu and Mustafa Akcakus and {Al Gazali}, Lihadh and Laszlo Sztriha and David Nicholl and Woods, {C. Geoffrey} and Christopher Bennett and Jane Hurst and Raoul Hennekam and Melissa Lees and Saunder Bernes and Henry Sanchez and Clark, {Aldon E.} and Elysa DeMarco and Elysa DeMarco and Clement Donahue and Elliot Sherr and Sanger, {Terence D.} and Gallager, {Tomas E.} and Dobyns, {William B.} and Cynthia Daugherty and Krishnamoorthy, {Kalpathy S.} and Dean Sarco and Walsh, {Christopher A.} and Trudy McKanna and Joanne Milisa and Chung, {Wendy K.} and {De Vivo}, {Darryl C.} and Hillary Raynes and Romaine Schubert and Alison Seward and Brooks, {David G.} and Amy Goldstein and James Caldwell and Eco Finsecke and Maria, {Bernard L.} and Kenton Holden and Cruse, {Robert P.} and Swoboda, {Kathryn J.} and Dave Viskochil and B. Dallapiccola and Gleeson, {J. G.} and Valente, {Enza Maria}",
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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

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