ArticleMolecular genetics & genomic medicine2019
Whole exome sequencing identifies novel predisposing genes in neural tube defects.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 30 citations in OpenAlex.
- Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome.Molecular genetics and genomics : MGG · 2026Article
- Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.Prenatal diagnosis · 2026Article
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.Human molecular genetics · 2024Article
- Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Gene-environment interactions underlying the etiology of neural tube defects.Current topics in developmental biology · 2023Article
- Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies.Journal of developmental biology · 2022Review
- 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
- Familial tendency in patients with lipoma of the filum terminale.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
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Closing in on Mechanisms of Open Neural Tube Defects.Trends in neurosciences · 2020Review
- Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital.Italian journal of pediatrics · 2020Article
- Breakpoint Mapping of Symptomatic Balanced Translocations Links theJournal of clinical medicine · 2020Article
- Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series.BMC neurology · 2020Article
- Integrin-Mediated Focal Anchorage Drives Epithelial Zippering during Mouse Neural Tube Closure.Developmental cell · 2020Article
- The search for genetic determinants of human neural tube defects.Current opinion in pediatrics · 2019Review
- Whole exome sequencing identifies novel predisposing genes in neural tube defects.Molecular genetics & genomic medicine · 2019Article
- Whole-Exome Sequencing Identifies DamagingFrontiers in neuroscience · 2019Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeural tube defects (NTD) are among the most common defects affecting 1:1000 births. They are caused by a failure of neural tube closure during development. Their clinical presentation is diverse and dependent on the site and severity of the original defect on the embryonic axis. The etiology of NTD is multifactorial involving environmental factors and genetic variants that remain largely unknown.
methodsWe have conducted a whole exome sequencing (WES) study in five new NTD families and pooled the results with WES data from three NTD families and 43 trios that were previously investigated by our group. We analyzed the data using biased candidate gene and unbiased gene burden approaches.
resultsWe identified four novel loss-of-function variants in three genes, MTHFR, DLC1, and ITGB1, previously associated with NTD. Notably, DLC1 carried two protein truncating variants in two independent cases. We also demonstrated an enrichment of variants in MYO1E involved in cytoskeletal remodeling. This enrichment reached borderline significance in a replication cohort supporting the association of this new candidate gene to NTD.
conclusionThese data provide some key insights into the pathogenic mechanisms of human NTD and demonstrate the power of next-generation sequencing in deciphering the genetics of this complex trait.
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