The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
Abstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. BBS is considered an autosomal recessive disorder, and recent positional cloning efforts have identified two BBS genes ( BBS2 and BBS6 ). We screened our cohort of 163 BBS families for mutations in both BBS2 and BBS6 and report the presence of three mutant alleles in affected individuals in four pedigrees. In addition, we detected unaffected individuals in two pedigrees who carry two BBS2 mutations but not a BBS6 mutation. We therefore propose that BBS may not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype. This triallelic model of disease transmission may be important in the study of both Mendelian and multifactorial disorders.
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Cites
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Cited by
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Genes and molecular pathways underpinning ciliopathies
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Leber congenital amaurosis: Genes, proteins and disease mechanisms
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Metadata
- Authors
- Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R.
- Venue
- Science
- Published
- 2001-09-21
- Volume
- 293
- Issue
- 5538
- Pages
- 2256-2259
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2039819049
- Cited by
- 655
- References
- 27
- FWCI
- 16.74
- Type
- journal article
- Language
- en
- Open access
- closed
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- Katsanis, N., Ansley, S. J., Badano, J. L., Eichers, E. R., Lewis, R. A., Hoskins, B. E., Scambler, P. J., Davidson, W. S., Beales, P. L., & Lupski, J. R. (2001). Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder. Science. https://doi.org/10.1126/science.1063525
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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