Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the geneti...
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| Published in | American journal of human genetics Vol. 97; no. 5; pp. 744 - 753 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
05.11.2015
Cell Press Elsevier |
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| Abstract | Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population. We studied 43 FC JBTS subjects from 35 families by combining targeted and exome sequencing. We identified pathogenic (n = 32 families) or possibly pathogenic (n = 2 families) variants in genes previously associated with JBTS in all of these subjects, except for one. In the latter case, we found a homozygous splice-site mutation (c.735+2T>C) in CEP104. Interestingly, we identified two additional non-FC JBTS subjects with mutations in CEP104; one of these subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166∗]) and a de novo splice-site mutation (c.2572−2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs∗3]) in CEP104. Previous studies have shown that CEP104 moves from the mother centriole to the tip of the primary cilium during ciliogenesis. Knockdown of CEP104 in retinal pigment epithelial (RPE1) cells resulted in severe defects in ciliogenesis. These observations suggest that CEP104 acts early during cilia formation by regulating the conversion of the mother centriole into the cilia basal body. We conclude that disruption of CEP104 causes JBTS. Our study also reveals that the cause of JBTS has been elucidated in the great majority of our FC subjects (33/35 [94%] families), even though JBTS shows substantial locus and allelic heterogeneity in this population. |
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| AbstractList | Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population. We studied 43 FC JBTS subjects from 35 families by combining targeted and exome sequencing. We identified pathogenic (n = 32 families) or possibly pathogenic (n = 2 families) variants in genes previously associated with JBTS in all of these subjects, except for one. In the latter case, we found a homozygous splice-site mutation (c.735+2T>C) in CEP104. Interestingly, we identified two additional non-FC JBTS subjects with mutations in CEP104; one of these subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166*]) and a de novo splice-site mutation (c.2572-2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs*3]) in CEP104. Previous studies have shown that CEP104 moves from the mother centriole to the tip of the primary cilium during ciliogenesis. Knockdown of CEP104 in retinal pigment epithelial (RPE1) cells resulted in severe defects in ciliogenesis. These observations suggest that CEP104 acts early during cilia formation by regulating the conversion of the mother centriole into the cilia basal body. We conclude that disruption of CEP104 causes JBTS. Our study also reveals that the cause of JBTS has been elucidated in the great majority of our FC subjects (33/35 [94%] families), even though JBTS shows substantial locus and allelic heterogeneity in this population. Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population. We studied 43 FC JBTS subjects from 35 families by combining targeted and exome sequencing. We identified pathogenic (n = 32 families) or possibly pathogenic (n = 2 families) variants in genes previously associated with JBTS in all of these subjects, except for one. In the latter case, we found a homozygous splice-site mutation (c.735+2T>C) in CEP104 . Interestingly, we identified two additional non-FC JBTS subjects with mutations in CEP104 ; one of these subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166 ∗ ]) and a de novo splice-site mutation (c.2572−2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs ∗ 3]) in CEP104 . Previous studies have shown that CEP104 moves from the mother centriole to the tip of the primary cilium during ciliogenesis. Knockdown of CEP104 in retinal pigment epithelial (RPE1) cells resulted in severe defects in ciliogenesis. These observations suggest that CEP104 acts early during cilia formation by regulating the conversion of the mother centriole into the cilia basal body. We conclude that disruption of CEP104 causes JBTS. Our study also reveals that the cause of JBTS has been elucidated in the great majority of our FC subjects (33/35 [94%] families), even though JBTS shows substantial locus and allelic heterogeneity in this population. Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the genetic landscape associated with JBTS in the French Canadian (FC) population. We studied 43 FC JBTS subjects from 35 families by combining targeted and exome sequencing. We identified pathogenic (n = 32 families) or possibly pathogenic (n = 2 families) variants in genes previously associated with JBTS in all of these subjects, except for one. In the latter case, we found a homozygous splice-site mutation (c.735+2T>C) in CEP104. Interestingly, we identified two additional non-FC JBTS subjects with mutations in CEP104; one of these subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166∗]) and a de novo splice-site mutation (c.2572−2A>G), whereas the other bears a homozygous frameshift mutation (c.1328_1329insT [p.Tyr444fs∗3]) in CEP104. Previous studies have shown that CEP104 moves from the mother centriole to the tip of the primary cilium during ciliogenesis. Knockdown of CEP104 in retinal pigment epithelial (RPE1) cells resulted in severe defects in ciliogenesis. These observations suggest that CEP104 acts early during cilia formation by regulating the conversion of the mother centriole into the cilia basal body. We conclude that disruption of CEP104 causes JBTS. Our study also reveals that the cause of JBTS has been elucidated in the great majority of our FC subjects (33/35 [94%] families), even though JBTS shows substantial locus and allelic heterogeneity in this population. |
| Author | Schwartzentruber, Jeremy Martin, Brissa Shalev, Stavit Nassif, Christina Michaud, Jacques L. Katsanis, Nicholas Laframboise, Rachel Elpeleg, Orly McKnight, Dianalee Patry, Lysanne Hamdan, Fadi F. Maftei, Catalina Labuda, Damian Fallet-Bianco, Catherine Décarie, Jean-Claude Rouleau, Guy A. Maranda, Bruno Boycott, Kym Srour, Myriam Massicotte, Christine Goldsher, Dorith Majewski, Jacek Brais, Bernard Boucher, Renée-Myriam Kukolich, Mary K. Ospina, Luis H. Dionne-Laporte, Alexandre Rypens, Françoise Soucy, Jean-François Lemyre, Emmanuelle Laberge, Anne-Marie Davis, Erica Mandel, Hanna |
| AuthorAffiliation | 14 Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada 1 Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC H3T 1C5, Canada 19 Ruth and Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa 3525433, Israel 9 Division of Medical Genetics, Centre Hospitalier Universitaire de Québec, Quebec City, QC G1V 4G2, Canada 11 Department of Medical Imaging, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC H3T 1C5, Canada 16 Department of Human Genetics, McGill University, Montreal, QC H3H 2B4, Canada 8 Department of Ophthalmology, Sainte-Justine Hospital, Montreal, QC H3T 1C5, Canada 17 Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Hebrew University of Jerusalem, Jerusalem 9112102, Israel 18 Cook Children’s Medical Center, Fort Worth, TX 76104, USA 6 McGill University and Génome Québec Innovation Centre, Montreal, QC H3A 1A4, Canada 5 Metabolic Unit, Department |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26477546$$D View this record in MEDLINE/PubMed |
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| Copyright | 2015 The American Society of Human Genetics Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Nov 5, 2015 2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics |
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| Title | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 |
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