ArticleHuman genetics1994
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.
Article in Human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Human embryonic stem cell-derived cardiomyocytes migrate in response to gradients of fibronectin and Wnt5a.Stem cells and development · 2013Article
- An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.American journal of human genetics · 2012Article
- Down syndrome: searching for the genetic culprits.Disease models & mechanisms · 2011Review
- The power of comparative and developmental studies for mouse models of Down syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Review
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Collagen type VI is a candidate for a role in the pathogenesis of congenital heart defects (CHD) in Down's syndrome. Three restriction fragment length polymorphisms of the COL6A1 gene were used to determine COL6A1 genotypes in 50 families of affected children with trisomy 21 (29 with congenital heart defects and 21 without) and 37 unrelated volunteers. We found seven unusual genotypes in the parents of affected children with Down's syndrome, five being unique to the parents of children with trisomy 21 and CHD. There were no unusual genotypes associated with other chromosome 21 loci. No single COL6A1 genotype was associated with CHD. Thus, the unusual genotypes unique to parents of affected children suggest that genetic variation in the COL6A1 gene region contributes to the pathogenesis of CHD in Down's syndrome.
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