ArticleHuman genetics2019
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome.Molecular genetics and genomics : MGG · 2026Article
- Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.Prenatal diagnosis · 2026Article
- Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.Journal of clinical medicine · 2025Review
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies.Journal of developmental biology · 2022Review
- Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.American journal of medical genetics. Part A · 2022Article
- Identification of new candidate genes for spina bifida through exome sequencing.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.Scientific reports · 2021Article
- The Dynamic Proteome of Oligodendrocyte Lineage Differentiation Features Planar Cell Polarity and Macroautophagy Pathways.GigaScience · 2020Article
- Closing in on Mechanisms of Open Neural Tube Defects.Trends in neurosciences · 2020Review
- Mutations associated with human neural tube defects display disrupted planar cell polarity ineLife · 2020Article
- Planar cell polarity signaling in the development of left-right asymmetry.Current opinion in cell biology · 2020Review
- The search for genetic determinants of human neural tube defects.Current opinion in pediatrics · 2019Review
- Genetic Markers of Spina Bifida in an Indian Cohort.Journal of Indian Association of Pediatric SurgeonsArticle
- Advances in the prevention and prenatal treatment of spina bifida.Discoveries (Craiova, Romania)Review
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
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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