ArticleBirth defects research. Part A, Clinical and molecular teratology2007
Screening for novel PAX3 polymorphisms and risks of spina bifida.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Bioinformatics in Neonatal/Pediatric Medicine-A Literature Review.Journal of personalized medicine · 2024Review
- Altered sacral neural crest development in Pax3 spina bifida mutants underlies deficits of bladder innervation and function.Developmental biology · 2021Article
- Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.Clinical epigenetics · 2019Article
- Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.Scientifica · 2017Review
- β-catenin regulates Pax3 and Cdx2 for caudal neural tube closure and elongation.Development (Cambridge, England) · 2014Article
- Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2013Article
- Shmt1 and de novo thymidylate biosynthesis underlie folate-responsive neural tube defects in mice.The American journal of clinical nutrition · 2011Article
- Epidemiologic and genetic aspects of spina bifida and other neural tube defects.Developmental disabilities research reviews · 2010Review
- Genetics of human neural tube defects.Human molecular genetics · 2009Review
- Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.Human genetics · 2008Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPAX3 plays an important role in mammalian embryonic development. Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs). Mutations in the murine homologue, pax3, are responsible for the phenotype of splotch mice, in which nullizygotes are 100% penetrant for NTDs.
methodsThe study sample included 74 infants with spina bifida (cases) and 87 nonmalformed infant controls. The conserved paired-box domain as well as the upstream genomic region of PAX3 were subjected to resequencing and those identified SNPs were evaluated as haplotypes. The associations of haplotypes for selected gene regions and the risks of spina bifida were further studied.
resultsNineteen SNPs were observed; 15 observed in controls had been submitted to the National Center for Biotechnology Information (NCBI) database with allele frequencies. The PAX3 gene variant T-1186C (rs16863657) and its related haplotype, TCTCCGCCC of nine SNPs, were found to be associated with an increased risk of spina bifida, with an OR of 3.5 (95% CI: 1.2-10.0) among Hispanic Whites.
conclusionsOur analyses indicated that PAX3 SNPs were not strong risk factors for human spina bifida. However, additional follow-up of the PAX3 gene variant T-1186C (rs16863657) and its related haplotype, TCTCCGCCC, may be important in other populations.
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