ArticleJournal of medical genetics1995
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 60 citations in OpenAlex.
- Hydrocephalus in Connection to Genetic Mutation in Cranial Neural Crest Cells.Orthodontics & craniofacial research · 2025Review
- Article
- Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development.Disease models & mechanisms · 2023Article
- 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
- RestrictedJournal of developmental biology · 2016Article
- Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.Human molecular genetics · 2013Article
- Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.Human genetics · 2008Article
- Screening for novel PAX3 polymorphisms and risks of spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2007Article
- Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.Journal of medical genetics · 1998Article
- PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.Journal of medical genetics · 1996Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Neural tube defects (NTD) are among the most prevalent congenital malformations in man. Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD. To test this hypothesis, 39 patients with familial NTD were screened by SSC analysis for mutations in exons 2 to 6 of the human PAX3 gene. One patient with lumbosacral meningomyelocele was identified with a 5 bp deletion in exon 5 approximately 55 bp upstream of the conserved homeodomain. The deletion causes a frameshift with a stop codon almost immediately after the mutated site. Clinical investigation of the index patient indicated mild signs of WS type I. Varying signs of this syndrome were found to cosegregate with the mutation in the family. Our results support the hypothesis that mutations in the gene for PAX3 can predispose to NTD, but also show that, in general, mutations within or near the conserved domains of the PAX3 protein are only very infrequently involved in familial NTD.
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