ArticleHuman molecular genetics2013
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Placental Protein Release and Uptake From the Fetal Circulation in Healthy Term Pregnancies-A Human In Vivo Exploratory Study.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Article
- Identification of novel genetic loci related to dromedary camel (Camelus dromedarius) morphometrics, biomechanics, and behavior by genome-wide association studies.BMC veterinary research · 2024Article
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
- Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.American journal of medical genetics. Part A · 2022Article
- Vangl2-environment interaction causes severe neural tube defects, without abnormal neuroepithelial convergent extension.Disease models & mechanisms · 2022Article
- 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
- Rare copy number variations of planar cell polarity genes are associated with human neural tube defects.Neurogenetics · 2020Article
- Article
- Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature.Journal of perinatology : official journal of the California Perinatal Association · 2018Review
- Quantitative Measurement of PARD3 Copy Number Variations in Human Neural Tube Defects.Cellular and molecular neurobiology · 2018Article
- Identification ofGenetics · 2018Article
- Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.American journal of medical genetics. Part A · 2017Review
- Genomic approaches to the assessment of human spina bifida risk.Birth defects research · 2017Review
- Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.Scientifica · 2017Review
- Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis.Neural regeneration research · 2016Article
- A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.Molecular syndromology · 2014Article
- Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.Human genetics · 2013Article
- Identification and expression analysis of zebrafish glypicans during embryonic development.PloS one · 2013Article
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16 authors.
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Abstract
Neural tube defects (NTDs) are common birth defects of complex etiology. Family and population-based studies have confirmed a genetic component to NTDs. However, despite more than three decades of research, the genes involved in human NTDs remain largely unknown. We tested the hypothesis that rare copy number variants (CNVs), especially de novo germline CNVs, are a significant risk factor for NTDs. We used array-based comparative genomic hybridization (aCGH) to identify rare CNVs in 128 Caucasian and 61 Hispanic patients with non-syndromic lumbar-sacral myelomeningocele. We also performed aCGH analysis on the parents of affected individuals with rare CNVs where parental DNA was available (42 sets). Among the eight de novo CNVs that we identified, three generated copy number changes of entire genes. One large heterozygous deletion removed 27 genes, including PAX3, a known spina bifida-associated gene. A second CNV altered genes (PGPD8, ZC3H6) for which little is known regarding function or expression. A third heterozygous deletion removed GPC5 and part of GPC6, genes encoding glypicans. Glypicans are proteoglycans that modulate the activity of morphogens such as Sonic Hedgehog (SHH) and bone morphogenetic proteins (BMPs), both of which have been implicated in NTDs. Additionally, glypicans function in the planar cell polarity (PCP) pathway, and several PCP genes have been associated with NTDs. Here, we show that GPC5 orthologs are expressed in the neural tube, and that inhibiting their expression in frog and fish embryos results in NTDs. These results implicate GPC5 as a gene required for normal neural tube development.
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