ArticlePloS one2013
Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.The Journal of clinical investigation · 2015Trial
- Article
- Lessons from a phenotypically normal infant with uniparental isodisomy of chromosome 21: a Case Report and review.Frontiers in genetics · 2025Article
- The role of Down syndrome cell adhesion molecule in Down syndrome.Medical review (2021) · 2024Review
- Dscam1 overexpression impairs the function of the gut nervous system in Drosophila.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.PLoS genetics · 2021Article
- Association Analysis of Variants ofFrontiers in cell and developmental biology · 2021Article
- Down syndrome mouse models have an abnormal enteric nervous system.JCI insight · 2019Article
- A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers.PLoS genetics · 2019Article
- A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21.European journal of human genetics : EJHG · 2019Article
- Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).Pediatric surgery international · 2018Review
- Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.BMC medical genetics · 2018Article
- Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players.Developmental biology · 2016Review
- Hirschsprung's disease, Down syndrome, and missing heritability: too much collagen slows migration.The Journal of clinical investigation · 2015Article
- Genetic Tools for the Analysis of Drosophila Stomatogastric Nervous System Development.PloS one · 2015Article
- A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.PloS one · 2014Article
- Apoptotic neuron-secreted HN12 inhibits cell apoptosis in Hirschsprung's disease.International journal of nanomedicineArticle
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 5 countries.
Funding
Abstract
Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these additional factors, we performed a dose-dependent association study on chromosome 21 in Down syndrome patients with HSCR. Assessing 10,895 SNPs in 26 Caucasian cases and their parents led to identify two associated SNPs (rs2837770 and rs8134673) at chromosome-wide level. Those SNPs, which were located in intron 3 of the DSCAM gene within a 19 kb-linkage disequilibrium block region were in complete association and are consistent with DSCAM expression during enteric nervous system development. We replicated the association of HSCR with this region in an independent sample of 220 non-syndromic HSCR Caucasian patients and their parents. At last, we provide the functional rationale to the involvement of DSCAM by network analysis and assessment of SOX10 regulation. Our results reveal the involvement of DSCAM as a HSCR susceptibility locus, both in Down syndrome and HSCR isolated cases. This study further ascertains the chromosome-scan dose-dependent methodology used herein as a mean to map the genetic bases of other sub-phenotypes both in Down syndrome and other aneuploidies.
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