Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped ( MKS1– MKS3), and two genes have been identified ( MKS1/FLJ20345 and MK...
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| Published in | American journal of human genetics Vol. 81; no. 1; pp. 170 - 179 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.07.2007
University of Chicago Press Cell Press American Society of Human Genetics |
| Subjects | |
| Online Access | Get full text |
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| Abstract | Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (
MKS1–
MKS3), and two genes have been identified (
MKS1/FLJ20345 and
MKS3/TMEM67), whereas the gene at the
MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM–resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing
CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the
MKS3 locus, between these two disorders,
CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified
CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (
MKS4) and the
CEP290 gene as responsible for MKS. |
|---|---|
| AbstractList | Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS. [PUBLICATION ABSTRACT] Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS. Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped ( MKS1 – MKS3 ), and two genes have been identified ( MKS1/FLJ20345 and MKS3/TMEM67 ), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM–resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS ( MKS4 ) and the CEP290 gene as responsible for MKS. Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped ( MKS1– MKS3), and two genes have been identified ( MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM–resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS ( MKS4) and the CEP290 gene as responsible for MKS. |
| Author | Sinico, Martine Meiner, Vardiella Gonzales, Marie MacDonald, Fiona Encha-Razavi, Férechté Toutain, Annick Roume, Joëlle Parent, Philippe Marcorelles, Pascale Gubler, Marie-Claire Vekemans, Michel Dauge, Marie-Christine Munnich, Arnold Moraine, Claude Ozilou, Catherine Lyonnet, Stanislas Saunier, Sophie Génin, Emmanuelle Meir, Karen Johnson, Colin A. Esculpavit, Chantal Merrer, Martine Le Martinovic, Jéléna Audollent, Sophie Salomon, Rémi Baala, Lekbir Beaufrère, Anne-Marie Rattenberry, Eleanor Francannet, Christine Dumez, Yves Menez, Françoise Tantau, Julia Sivanandamoorthy, Sivanthiny Babron, Marie-Claude Attié-Bitach, Tania |
| AuthorAffiliation | From the INSERM U781 (L.B.; S. Sivanandamoorthy; M.L.M.; A.M.; S.L.; M.V.; F.E.-R.; T.A.-B.) and U574 (S. Saunier; R.S.; M.-C.G.), Université René Descartes (L.B.; C.E.; M.L.M.; A.M.; S.L.; M.V.; F.E.-R.; T.A.-B.), Département de Génétique (S.A.; J.M.; C.O.; A.M.; S.L.; M.V.; F.E.-R.; T.A.-B.), and Service Maternité (Y.D.), Hôpital Necker-Enfants Malades, Service de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau (M.G.), Service d’Anatomie Pathologique, Hôpital Bichat (M.-C.D.), Service de Biologie du Développement, Hôpital Robert Debré (F.M.), and Service d’Anatomopathologie, Hôpital Saint-Vincent de Paul (J.T.), Assistance Publique–Hôpitaux de Paris, Paris; INSERM U535 and Université Paris Sud, Villejuif, France (M.C.-B.; E.G.); West Midlands Regional Genetics, Birmingham Women’s Hospital, Birmingham, United Kingdom (E.R.; F.M.); Service de Génétique, Centre Hospitalo–Universitaire Hôpital Bretonneau, Tours, France (A.T.; C.M.); Département de Pédiatrie et Génétique Mé |
| AuthorAffiliation_xml | – name: From the INSERM U781 (L.B.; S. Sivanandamoorthy; M.L.M.; A.M.; S.L.; M.V.; F.E.-R.; T.A.-B.) and U574 (S. Saunier; R.S.; M.-C.G.), Université René Descartes (L.B.; C.E.; M.L.M.; A.M.; S.L.; M.V.; F.E.-R.; T.A.-B.), Département de Génétique (S.A.; J.M.; C.O.; A.M.; S.L.; M.V.; F.E.-R.; T.A.-B.), and Service Maternité (Y.D.), Hôpital Necker-Enfants Malades, Service de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau (M.G.), Service d’Anatomie Pathologique, Hôpital Bichat (M.-C.D.), Service de Biologie du Développement, Hôpital Robert Debré (F.M.), and Service d’Anatomopathologie, Hôpital Saint-Vincent de Paul (J.T.), Assistance Publique–Hôpitaux de Paris, Paris; INSERM U535 and Université Paris Sud, Villejuif, France (M.C.-B.; E.G.); West Midlands Regional Genetics, Birmingham Women’s Hospital, Birmingham, United Kingdom (E.R.; F.M.); Service de Génétique, Centre Hospitalo–Universitaire Hôpital Bretonneau, Tours, France (A.T.; C.M.); Département de Pédiatrie et Génétique Médicale et Laboratoire d’Anatomopathologie, Centre Hospitalier Régional Universitaire, Hôpital Morvan, Brest, France (P.P.; P.M.); Génétique Médicale, Centre Hospitalier Intercommunal, Poissy, Saint-Germain-En-Laye, France (J.R.); Department of Human Genetics and Pathology, Hadassah University Hospital, Jerusalem (V.M.; K.M.); Services d’Anatomie Pathologique et Génétique Médicale, Hôpital Hôtel Dieu, Clermont-Ferrand, France (A.M.-B.; C.F.); Service d’Anatomopathologie, Centre Hospitalier Intercommunal de Créteil, Créteil, France (M.S.); and Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James’s University Hospital, Leeds, United Kingdom (C.A.J.) |
| Author_xml | – sequence: 1 givenname: Lekbir surname: Baala fullname: Baala, Lekbir organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 2 givenname: Sophie surname: Audollent fullname: Audollent, Sophie organization: Département de Génétique, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 3 givenname: Jéléna surname: Martinovic fullname: Martinovic, Jéléna organization: Département de Génétique, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 4 givenname: Catherine surname: Ozilou fullname: Ozilou, Catherine organization: Département de Génétique, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 5 givenname: Marie-Claude surname: Babron fullname: Babron, Marie-Claude organization: INSERM U535 and Université Paris Sud, Villejuif, France – sequence: 6 givenname: Sivanthiny surname: Sivanandamoorthy fullname: Sivanandamoorthy, Sivanthiny organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 7 givenname: Sophie surname: Saunier fullname: Saunier, Sophie organization: U574, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 8 givenname: Rémi surname: Salomon fullname: Salomon, Rémi organization: U574, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 9 givenname: Marie surname: Gonzales fullname: Gonzales, Marie organization: Hôpital Necker-Enfants Malades, Service de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 10 givenname: Eleanor surname: Rattenberry fullname: Rattenberry, Eleanor organization: West Midlands Regional Genetics, Birmingham Women’s Hospital, Birmingham, United Kingdom – sequence: 11 givenname: Chantal surname: Esculpavit fullname: Esculpavit, Chantal organization: Université René Descartes, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 12 givenname: Annick surname: Toutain fullname: Toutain, Annick organization: Service de Génétique, Centre Hospitalo–Universitaire Hôpital Bretonneau, Tours, France – sequence: 13 givenname: Claude surname: Moraine fullname: Moraine, Claude organization: Service de Génétique, Centre Hospitalo–Universitaire Hôpital Bretonneau, Tours, France – sequence: 14 givenname: Philippe surname: Parent fullname: Parent, Philippe organization: Département de Pédiatrie et Génétique Médicale et Laboratoire d’Anatomopathologie, Centre Hospitalier Régional Universitaire, Hôpital Morvan, Brest, France – sequence: 15 givenname: Pascale surname: Marcorelles fullname: Marcorelles, Pascale organization: Département de Pédiatrie et Génétique Médicale et Laboratoire d’Anatomopathologie, Centre Hospitalier Régional Universitaire, Hôpital Morvan, Brest, France – sequence: 16 givenname: Marie-Christine surname: Dauge fullname: Dauge, Marie-Christine – sequence: 17 givenname: Joëlle surname: Roume fullname: Roume, Joëlle organization: Génétique Médicale, Centre Hospitalier Intercommunal, Poissy, Saint-Germain-En-Laye, France – sequence: 18 givenname: Martine Le surname: Merrer fullname: Merrer, Martine Le organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 19 givenname: Vardiella surname: Meiner fullname: Meiner, Vardiella organization: Department of Human Genetics and Pathology, Hadassah University Hospital, Jerusalem – sequence: 20 givenname: Karen surname: Meir fullname: Meir, Karen organization: Department of Human Genetics and Pathology, Hadassah University Hospital, Jerusalem – sequence: 21 givenname: Françoise surname: Menez fullname: Menez, Françoise organization: Service de Biologie du Développement, Hôpital Robert Debré, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 22 givenname: Anne-Marie surname: Beaufrère fullname: Beaufrère, Anne-Marie organization: Services d’Anatomie Pathologique et Génétique Médicale, Hôpital Hôtel Dieu, Clermont-Ferrand, France – sequence: 23 givenname: Christine surname: Francannet fullname: Francannet, Christine organization: Services d’Anatomie Pathologique et Génétique Médicale, Hôpital Hôtel Dieu, Clermont-Ferrand, France – sequence: 24 givenname: Julia surname: Tantau fullname: Tantau, Julia organization: Service d’Anatomopathologie, Hôpital Saint-Vincent de Paul, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 25 givenname: Martine surname: Sinico fullname: Sinico, Martine organization: Service d’Anatomopathologie, Centre Hospitalier Intercommunal de Créteil, Créteil, France – sequence: 26 givenname: Yves surname: Dumez fullname: Dumez, Yves organization: Service Maternité, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 27 givenname: Fiona surname: MacDonald fullname: MacDonald, Fiona organization: Service de Biologie du Développement, Hôpital Robert Debré, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 28 givenname: Arnold surname: Munnich fullname: Munnich, Arnold organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 29 givenname: Stanislas surname: Lyonnet fullname: Lyonnet, Stanislas organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 30 givenname: Marie-Claire surname: Gubler fullname: Gubler, Marie-Claire organization: Hôpital Necker-Enfants Malades, Service de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 31 givenname: Emmanuelle surname: Génin fullname: Génin, Emmanuelle organization: INSERM U535 and Université Paris Sud, Villejuif, France – sequence: 32 givenname: Colin A. surname: Johnson fullname: Johnson, Colin A. organization: Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St. James’s University Hospital, Leeds, United Kingdom – sequence: 33 givenname: Michel surname: Vekemans fullname: Vekemans, Michel organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 34 givenname: Férechté surname: Encha-Razavi fullname: Encha-Razavi, Férechté organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris – sequence: 35 givenname: Tania surname: Attié-Bitach fullname: Attié-Bitach, Tania email: tania.attie@necker.fr organization: From the INSERM U781, Assistance Publique–Hôpitaux de Paris, Paris |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18898501$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/17564974$$D View this record in MEDLINE/PubMed |
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| DocumentTitleAlternate | CEP290 Mutations in Meckel Syndrome |
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| Keywords | Human Nervous system diseases Urinary system disease Malformation Diseases of the osteoarticular system Digestive diseases Genetics Mutation Meckel syndrome Genetic disease |
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| Snippet | Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney... |
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| SubjectTerms | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Antigens, Neoplasm - genetics Biological and medical sciences Brain - abnormalities Chromosomes DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology Gene expression Gene loci General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Haplotypes Humans Liver - abnormalities Liver - pathology Lod Score Male Malformations of the nervous system Medical genetics Medical sciences Molecular and cellular biology Multicystic Dysplastic Kidney - genetics Multicystic Dysplastic Kidney - pathology Mutation Neoplasm Proteins - genetics Neurological disorders Neurology Pedigree Polydactyly - genetics Portal System - abnormalities Syndrome |
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| Title | Pleiotropic Effects of CEP290 ( NPHP6) Mutations Extend to Meckel Syndrome |
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