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Journal articles
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
Marie Beaumont
1
Linda Akloul
1
Wilfrid Carré
2, 1
Chloé Quélin
1
Hubert Journel
3
Laurent Pasquier
1
Mélanie Fradin
1
Sylvie Odent
1, 2
Houda Hamdi-Roze
1
Erwan Watrin
2
Valérie Dupé
2
Christèle Dubourg
2, 1
Véronique David
2, 1
Véronique David 2, 1
Author
1
CHU Pontchaillou [Rennes] (2 Rue Henri le Guilloux, 35000 Rennes - France)
2
IGDR - Institut de Génétique et Développement de Rennes (Faculté de Médecine - CS 34317 2 Av du Professeur Léon Bernard 35043 Rennes Cedex - France)
- UR1 - Université de Rennes 1 (2 rue du Thabor - CS 46510 - 35065 Rennes cedex - France)
- UNIV-RENNES - Université de Rennes (France)
- CNRS - Centre National de la Recherche Scientifique : UMR6290 (France)
- Biosit : Biologie - Santé - Innovation Technologique - Structure Fédérative de Recherche en Biologie et Santé de Rennes (Université Rennes 1 - Campus Santé Villejean - 2, avenue Professeur Léon Bernard 35043 Rennes cedex - France)
3
Centre Hospitalier Bretagne Atlantique [Vannes] (20 Boulevard Général Maurice Guillaudot, 56000 Vannes - France)
Abstract : Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high prevalence-1 out of 3000 live births-their etiology is not yet established and both environmental and genetic factors have been proposed, with a heritability rate of about 60%. Studies in mouse models as well as in human have further suggested a multifactorial pattern of inheritance for neural tube defect disorders. Here, we report results obtained from clinical diagnosis and NGS analysis of a cohort composed of 52 patients. Using a candidate gene panel approach, we identified variants in known genes of planar cell polarity (PCP) pathway, although with higher prevalence than previously reported. Our study also reveals variants in novel genes such as FREM2 and DISP1. Altogether, these results confirm the implication of the PCP genes and involve the FRAS/FREM2 complex and Sonic Hedgehog signaling as novel components in the appearance of NTDs.
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Complete list of metadatas
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02119226
Contributor : Xavier Chard-Hutchinson <>
Submitted on : Friday, May 3, 2019 - 4:22:24 PM
Last modification on : Monday, January 27, 2020 - 2:08:16 PM
Contributor : Xavier Chard-Hutchinson <>
Submitted on : Friday, May 3, 2019 - 4:22:24 PM
Last modification on : Monday, January 27, 2020 - 2:08:16 PM
Identifiers
- HAL Id : hal-02119226, version 1
- DOI : 10.1007/s00439-019-01993-y
- PUBMED : 30838450
Collections
UNIV-RENNES1 | IGDR | CNRS | BIOSIT | UR1-UFR-SVE | UNIV-RENNES
Citation
Marie Beaumont, Linda Akloul, Wilfrid Carré, Chloé Quélin, Hubert Journel, et al.. Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders. Human Genetics, Springer Verlag, 2019, 138 (4), pp.363-374. ⟨10.1007/s00439-019-01993-y⟩. ⟨hal-02119226⟩
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