ArticleJournal of medical genetics1996
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Article in Journal of medical genetics, 1996. 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, 74 citations in OpenAlex.
- An overview of PAX1: Expression, function and regulation in development and diseases.Frontiers in cell and developmental biology · 2022Review
- Nutrigenomic Studies on the Ameliorative Effect of Enzyme-Digested Phycocyanin in Alzheimer's Disease Model Mice.Nutrients · 2021Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening.Molecular genetics & genomic medicine · 2019Review
- Review
- A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.Human genetics · 2013Article
- Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2013Article
- Screening for novel PAX3 polymorphisms and risks of spina bifida.Birth defects research. Part A, Clinical and molecular teratology · 2007Article
- Current perspectives on the genetic causes of neural tube defects.Neurogenetics · 2006Review
- Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.Journal of medical genetics · 2005Article
- Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.Therapeutic advances in rare diseaseArticle
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
From studies in the mouse and from the clinical and molecular analysis of patients with type 1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors in the aetiology of human neural tube defects (NTD). To investigate the role of PAX1, PAX3, PAX7, and PAX9, allelic association studies were performed in 79 sporadic and 38 familial NTD patients from the Dutch population. Sequence variation was studied by SSC analysis of the paired domain regions of the PAX1, PAX7, and PAX9 genes and of the complete PAX3 gene. In one patient with spina bifida, a mutation in the PAX1 gene was detected changing the conserved amino acid Gln to His at position 42 in the paired domain of the protein. The mutation was inherited through the maternal line from the unaffected grandmother and was not detected in 300 controls. In the PAX3 gene, variation was detected at several sites including a Thr/Lys amino acid substitution in exon 6. All alleles were present among patients and controls in about the same frequencies. However, an increased frequency of the rare allele of a silent polymorphism in exon 2 was found in NTD patients, but no significant association was observed (p = 0.06). No sequence variation was observed in the paired domain of the PAX7 and PAX9 genes. Our findings so far do not support a major role of the PAX genes examined in the aetiology of NTD. However, the detection of a mutation in PAX1 suggests that, in principle, this gene can act as a risk factor for human NTD.
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