ArticleBirth defects research. Part A, Clinical and molecular teratology2006
High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 15 citations in OpenAlex.
- Organoids as a new model system to study neural tube defects.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Review
- Closing in on Mechanisms of Open Neural Tube Defects.Trends in neurosciences · 2020Review
- Classification, clinical features, and genetics of neural tube defects.Saudi medical journal · 2014Review
- Genetics of human neural tube defects.Human molecular genetics · 2009Review
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundNeural tube defects (NTDs) are considered complex, with both genetic and environmental factors implicated. To date, no major causative genes have been identified in humans despite several investigations. The first genomewide screen in NTDs demonstrated evidence of linkage to chromosomes 7 and 10. This screen included 44 multiplex families and consisted of 402 microsatellite markers spaced approximately 10 cM apart. Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7.
methodsTo investigate this family more thoroughly, a high-density single nucleotide polymorphism (SNP) screen was performed. Two-point and multipoint linkage analyses were performed using both parametric and nonparametric methods.
resultsFor both the microsatellite and SNP markers, linkage analysis suggested the involvement of a locus or loci proximal to the telomeric regions of chromosomes 2q and 7p, with both regions generating a LOD* score of 3.0 using a nonparametric identity by descent relative sharing method.
conclusionsThe regions with the strongest evidence for linkage map proximal to the telomeres on these two chromosomes. In addition to mutations and/or variants in a major gene, these loci may harbor a microdeletion and/or translocation; potentially, polygenic factors may also be involved. This single family may be promising for narrowing the search for NTD susceptibility genes.
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