Diagnostic strategy in segmentation defect ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
Author(s) :
Lefebvre, Mathilde [Auteur]
Dieux-Coeslier, Anne [Auteur]
Baujat, Genevieve [Auteur]
Schaefer, Elise [Auteur]
Judith, Saint-Onge [Auteur]
Bazin, Anne [Auteur]
Centre d'Etudes et de Recherches Administratives, Politiques et Sociales - UMR 8026 [CERAPS]
Pinson, Lucile [Auteur]
Attie-Bitach, Tania [Auteur]
Baumann, Clarisse [Auteur]
Fradin, Melanie [Auteur]
Pierquin, Genevieve [Auteur]
Julia, Sophie [Auteur]
Quelin, Chloe [Auteur]
Doray, Berenice [Auteur]
Berg, Sylvie [Auteur]
Vincent, Catherine [Auteur]
Lambert, Laetitia [Auteur]
Bachmann, Nadine [Auteur]
Lacombe, Didier [Auteur]
Isidor, Bertrand [Auteur]
Laurent, Nicole [Auteur]
Joelle, Roume [Auteur]
Blanchet, Patricia [Auteur]
Odent, Sylvie [Auteur]
Kervran, Dominique [Auteur]
Leporrier, Nathalie [Auteur]
Abel, Carine [Auteur]
Segers, Karine [Auteur]
Giuliano, Fabienne [Auteur]
Ginglinger-Fabre, Emmanuelle [Auteur]
Selicorni, Angelo [Auteur]
Goldenberg, Alice [Auteur]
El Chehadeh-Djebbar, Salima [Auteur]
Francannet, Christine [Auteur]
Demeer, Benedicte [Auteur]
Duffourd, Yannis [Auteur]
Thauvin-Robinet, Christel [Auteur]
Verloes, Alain [Auteur]
Cormier-Daire, Valerie [Auteur]
Riviere, Jean-Baptiste [Auteur]
Faivre, Laurence [Auteur]
Thevenon, Julien [Auteur]
Dieux-Coeslier, Anne [Auteur]
Baujat, Genevieve [Auteur]
Schaefer, Elise [Auteur]
Judith, Saint-Onge [Auteur]
Bazin, Anne [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Centre d'Etudes et de Recherches Administratives, Politiques et Sociales - UMR 8026 [CERAPS]
Pinson, Lucile [Auteur]
Attie-Bitach, Tania [Auteur]
Baumann, Clarisse [Auteur]
Fradin, Melanie [Auteur]
Pierquin, Genevieve [Auteur]
Julia, Sophie [Auteur]
Quelin, Chloe [Auteur]
Doray, Berenice [Auteur]
Berg, Sylvie [Auteur]
Vincent, Catherine [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Lambert, Laetitia [Auteur]
Bachmann, Nadine [Auteur]
Lacombe, Didier [Auteur]
Isidor, Bertrand [Auteur]
Laurent, Nicole [Auteur]
Joelle, Roume [Auteur]
Blanchet, Patricia [Auteur]
Odent, Sylvie [Auteur]
Kervran, Dominique [Auteur]
Leporrier, Nathalie [Auteur]
Abel, Carine [Auteur]
Segers, Karine [Auteur]
Giuliano, Fabienne [Auteur]
Ginglinger-Fabre, Emmanuelle [Auteur]
Selicorni, Angelo [Auteur]
Goldenberg, Alice [Auteur]
El Chehadeh-Djebbar, Salima [Auteur]
Francannet, Christine [Auteur]
Demeer, Benedicte [Auteur]
Duffourd, Yannis [Auteur]
Thauvin-Robinet, Christel [Auteur]
Verloes, Alain [Auteur]
Cormier-Daire, Valerie [Auteur]
Riviere, Jean-Baptiste [Auteur]
Faivre, Laurence [Auteur]
Thevenon, Julien [Auteur]
Journal title :
Journal of medical genetics
Abbreviated title :
J. Med. Genet.
Publication date :
2018-02-19
ISSN :
1468-6244
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
BACKGROUND: Segmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and classification issues. ...
Show more >BACKGROUND: Segmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and classification issues. The genes involved are in the Notch signalling pathway, which is a key system in somitogenesis. Here we report on mutations identified in a diagnosis cohort of SDV. We focused on spondylocostal dysostosis (SCD) and the phenotype of these patients in order to establish a diagnostic strategy when confronted with SDV. METHODS: We used DNA samples from a cohort of 73 patients and performed targeted sequencing of the five known SCD-causing genes (DLL3MESP2LFNGHES7TBX6 RESULTS: Ten diagnoses, including four biallelic variants in TBX6LFNGDLL3MESP2HES7FLNBMEOX1, CONCLUSIONS: After negative array CGH, targeted sequencing of the five known SCD genes should only be performed in patients who meet the diagnostic criteria of SCD. The low proportion of candidate genes identified by WES in our cohort suggests the need to consider more complex genetic architectures in cases of SDV.Show less >
Show more >BACKGROUND: Segmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and classification issues. The genes involved are in the Notch signalling pathway, which is a key system in somitogenesis. Here we report on mutations identified in a diagnosis cohort of SDV. We focused on spondylocostal dysostosis (SCD) and the phenotype of these patients in order to establish a diagnostic strategy when confronted with SDV. METHODS: We used DNA samples from a cohort of 73 patients and performed targeted sequencing of the five known SCD-causing genes (DLL3MESP2LFNGHES7TBX6 RESULTS: Ten diagnoses, including four biallelic variants in TBX6LFNGDLL3MESP2HES7FLNBMEOX1, CONCLUSIONS: After negative array CGH, targeted sequencing of the five known SCD genes should only be performed in patients who meet the diagnostic criteria of SCD. The low proportion of candidate genes identified by WES in our cohort suggests the need to consider more complex genetic architectures in cases of SDV.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Collections :
Submission date :
2021-09-02T07:01:12Z