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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndr...
| Autores principales: | , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113192/ https://www.ncbi.nlm.nih.gov/pubmed/24886560 http://dx.doi.org/10.1186/1750-1172-9-72 |
| _version_ | 1782328260715085824 |
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| author | Romani, Marta Micalizzi, Alessia Kraoua, Ichraf Dotti, Maria Teresa Cavallin, Mara Sztriha, László Ruta, Rosario Mancini, Francesca Mazza, Tommaso Castellana, Stefano Hanene, Benrhouma Carluccio, Maria Alessandra Darra, Francesca Máté, Adrienn Zimmermann, Alíz Gouider-Khouja, Neziha Valente, Enza Maria |
| author_facet | Romani, Marta Micalizzi, Alessia Kraoua, Ichraf Dotti, Maria Teresa Cavallin, Mara Sztriha, László Ruta, Rosario Mancini, Francesca Mazza, Tommaso Castellana, Stefano Hanene, Benrhouma Carluccio, Maria Alessandra Darra, Francesca Máté, Adrienn Zimmermann, Alíz Gouider-Khouja, Neziha Valente, Enza Maria |
| author_sort | Romani, Marta |
| collection | PubMed |
| description | Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome. |
| format | Online Article Text |
| id | pubmed-4113192 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-41131922014-07-29 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome Romani, Marta Micalizzi, Alessia Kraoua, Ichraf Dotti, Maria Teresa Cavallin, Mara Sztriha, László Ruta, Rosario Mancini, Francesca Mazza, Tommaso Castellana, Stefano Hanene, Benrhouma Carluccio, Maria Alessandra Darra, Francesca Máté, Adrienn Zimmermann, Alíz Gouider-Khouja, Neziha Valente, Enza Maria Orphanet J Rare Dis Letter to the Editor Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome. BioMed Central 2014-05-05 /pmc/articles/PMC4113192/ /pubmed/24886560 http://dx.doi.org/10.1186/1750-1172-9-72 Text en Copyright © 2014 Romani et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| spellingShingle | Letter to the Editor Romani, Marta Micalizzi, Alessia Kraoua, Ichraf Dotti, Maria Teresa Cavallin, Mara Sztriha, László Ruta, Rosario Mancini, Francesca Mazza, Tommaso Castellana, Stefano Hanene, Benrhouma Carluccio, Maria Alessandra Darra, Francesca Máté, Adrienn Zimmermann, Alíz Gouider-Khouja, Neziha Valente, Enza Maria Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome |
| title | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome |
| title_full | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome |
| title_fullStr | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome |
| title_full_unstemmed | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome |
| title_short | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome |
| title_sort | mutations in b9d1 and mks1 cause mild joubert syndrome: expanding the genetic overlap with the lethal ciliopathy meckel syndrome |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113192/ https://www.ncbi.nlm.nih.gov/pubmed/24886560 http://dx.doi.org/10.1186/1750-1172-9-72 |
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