ArticleScientific reports2021
Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
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- Morphometric analysis of spina bifida after fetal repair shows new subtypes with associated outcomes.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025Article
- Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele.medRxiv : the preprint server for health sciences · 2025Article
- Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings.Pediatric discovery · 2025Review
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- The WAVE complex in developmental and adulthood brain disorders.Experimental & molecular medicine · 2025Review
- The dynamics of tubulogenesis in development and disease.Development (Cambridge, England) · 2025Review
- Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.American journal of human genetics · 2024Article
- Epigenetic regulation by TET1 in gene-environmental interactions influencing susceptibility to congenital malformations.bioRxiv : the preprint server for biology · 2024Article
- Risk of meningomyelocele mediated by the common 22q11.2 deletion.Science (New York, N.Y.) · 2024Article
- Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension.Disease models & mechanisms · 2022Article
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
Abstract
Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and environmental factors contribute to disease risk but the mechanism is unclear. This study examined 506 MMC subjects for ultra-rare deleterious variants (URDVs, absent in gnomAD v2.1.1 controls that have Combined Annotation Dependent Depletion score ≥ 20) in candidate genes either known to cause abnormal neural tube closure in animals or previously associated with human MMC in the current study cohort. Approximately 70% of the study subjects carried one to nine URDVs among 302 candidate genes. Half of the study subjects carried heterozygous URDVs in multiple genes involved in the structure and/or function of cilium, cytoskeleton, extracellular matrix, WNT signaling, and/or cell migration. Another 20% of the study subjects carried heterozygous URDVs in candidate genes associated with gene transcription regulation, folate metabolism, or glucose metabolism. Presence of URDVs in the candidate genes involving these biological function groups may elevate the risk of developing myelomeningocele in the study cohort.
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