ArticleMolecular genetics and metabolism2018
Digenic variants of planar cell polarity genes in human neural tube defect patients.
Article in Molecular genetics and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 48 citations in OpenAlex.
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- Fold-and-fuse neurulation in zebrafish requires vangl2.Developmental biology · 2025Article
- Semaglutide ameliorates cardiac remodeling in male mice by optimizing energy substrate utilization through the Creb5/NR4a1 axis.Nature communications · 2024Article
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.Human genetics · 2024Article
- Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.NPJ genomic medicine · 2024Article
- Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects.Research square · 2024Article
- Association between maternal exposure to chemical fertilizer and the risk of birth defects in a rural population in northern China: a population-based study.International health · 2023Article
- Functional interaction between Vangl2 and N-cadherin regulates planar cell polarization of the developing neural tube and cochlear sensory epithelium.Scientific reports · 2023Article
- A quest for genetic causes underlying signaling pathways associated with neural tube defects.Frontiers in pediatrics · 2023Review
- CIC missense variants contribute to susceptibility for spina bifida.Human mutation · 2022Article
- Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.Database : the journal of biological databases and curation · 2022Article
- Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity.Scientific reports · 2021Article
- Structural basis of the human Scribble-Vangl2 association in health and disease.The Biochemical journal · 2021Article
- Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice.Nature communications · 2021Article
- Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.Scientific reports · 2021Article
- Perspectives on urological care in spina bifida patients.Intractable & rare diseases research · 2021Review
- Gene Environment Interactions in the Etiology of Neural Tube Defects.Frontiers in genetics · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 2 institutions in 3 countries.
Funding
Abstract
Neural tube defects (NTDs) are considered to be a complex genetic disorder, although the identity of the genetic factors remains largely unknown. Mouse model studies suggest a multifactorial oligogenic pattern of inheritance for NTDs, yet evidence from published human studies is surprisingly absent. In the present study, targeted next-generation sequencing was performed to screen for DNA variants in the entire coding regions and intron-exon boundaries of targeted genes using DNA samples from 510 NTD cases. These candidate genes were PCP genes, including VANGL1, VANGL2, CELSR1, SCRIB, DVL2, DVL3 and PTK7. Candidate variants were validated using Sanger sequencing. A total of 397 single nucleotide variants(SNVs) were identified with a mean depth of approximately 570×. Of these identified SNVs, 74 were predicted to affect protein function and had a minor allele frequency of <0.01 or unknown. Among these 74 missense SNVs, 10 were identified from six NTD cases that carried two mutated genes. Of the six NTD cases, three spina bifida cases and one anencephaly case carried digenic variants in the CELSR1 and SCRIB gene; one anencephaly case carried variants in the CELSR1 and DVL3 gene; and one spina bifida case carried variants in the PTK7 and SCRIB genes. Three cases that parental samples were available were confirmed to be compound heterozygous. None of the digenic variants were found in the 1000 genome database. The findings imply that genetic variation might interact in a digenic fashion to generate the visible NTD phenotypes and emphasize the importance of these genetic interactions in the development of NTDs in humans.
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