Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03-05

AUTHORS

Marie Beaumont, Linda Akloul, Wilfrid Carré, Chloé Quélin, Hubert Journel, Laurent Pasquier, Mélanie Fradin, Sylvie Odent, Houda Hamdi-Rozé, Erwan Watrin, Valérie Dupé, Christèle Dubourg, Véronique David

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. More... »

PAGES

363-374

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00439-019-01993-y

DOI

http://dx.doi.org/10.1007/s00439-019-01993-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112540620

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30838450


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34 schema:description 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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