Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
-
- Nicholas Katsanis
- Departments of Molecular and Human Genetics,
-
- Stephen J. Ansley
- Departments of Molecular and Human Genetics,
-
- Jose L. Badano
- Departments of Molecular and Human Genetics,
-
- Erica R. Eichers
- Departments of Molecular and Human Genetics,
-
- Richard Alan Lewis
- Departments of Molecular and Human Genetics,
-
- Bethan E. Hoskins
- Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, UK.
-
- Peter J. Scambler
- Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, UK.
-
- William S. Davidson
- Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, V5A 1S6, Canada.
-
- Philip L. Beales
- Molecular Medicine Unit, Institute of Child Health, University College London, London WC1N 1EH, UK.
-
- James R. Lupski
- Departments of Molecular and Human Genetics,
書誌事項
- 公開日
- 2001-09-21
- DOI
-
- 10.1126/science.1063525
- 公開者
- American Association for the Advancement of Science (AAAS)
この論文をさがす
説明
<jats:p> 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 <jats:italic>BBS</jats:italic> genes ( <jats:italic>BBS2</jats:italic> and <jats:italic>BBS6</jats:italic> ). We screened our cohort of 163 BBS families for mutations in both <jats:italic>BBS2</jats:italic> and <jats:italic>BBS6</jats:italic> 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 <jats:italic>BBS2</jats:italic> mutations but not a <jats:italic>BBS6</jats:italic> 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. </jats:p>
収録刊行物
-
- Science
-
Science 293 (5538), 2256-2259, 2001-09-21
American Association for the Advancement of Science (AAAS)