ArticleHuman mutation2020
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Assessment of apoptosis and autophagy in oral squamous cell carcinoma cell line treated with salivary exosomes.Odontology · 2026Article
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- Transcriptome profiling reveals dysregulation of inflammatory and protein synthesis genes in PCOS.Scientific reports · 2024Article
- Quantitative Analysis of NKX2-3 Expression in Human Colon: An Immunohistochemical Study.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2024Article
- LAMR1 restricts Zika virus infection by attenuating the envelope protein ubiquitination.Virulence · 2021Article
- Development and Validation of an Autophagy-Related Signature for Head and Neck Squamous Cell Carcinoma.BioMed research international · 2021Article
- Ameliorated Autoimmune Arthritis and Impaired B Cell Receptor-Mediated CaInternational journal of molecular sciences · 2020Article
- Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series.BMC neurology · 2020Article
- Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.Human mutation · 2020Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic intestinal varicosis is a developmental disorder defined by dilated and convoluted submucosal veins in the colon or small bowel. A limited number of families with idiopathic intestinal varices has been reported, but the genetic cause has not yet been identified. We performed whole-exome and targeted Sanger sequencing of candidate genes in five intestinal varicosis families. In four families, mutations in the RPSA gene were found, a gene previously linked to congenital asplenia. Individuals in these pedigrees had intestinal varicose veins and angiodysplasia, often in combination with asplenia. In a further four-generation pedigree that only showed intestinal varicosities, the RPSA gene was normal. Instead, a nonsense mutation in the homeobox gene NKX2-3 was detected which cosegregated with the disease in this large family with a LOD (logarithm of the odds) score of 3.3. NKX2-3 is a component of a molecular pathway underlying spleen and gut vasculature development in mice. Our results provide a molecular basis for familial idiopathic intestinal varices. We provide evidence for a relationship between the molecular pathways underlying the development of the spleen and intestinal mucosal vasculature that is conserved between humans and mice. We propose that clinical management of intestinal varices, should include assessment of a functional spleen.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.