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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bardet-Biedl syndrome


Other Names for this Disease
  • BBS
  • Biedl-Bardet Syndrome
  • Laurence Moon Bardet Biedl syndrome
  • Laurence Moon syndrome
  • LMBBS
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Inheritance


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How is Bardet-Biedl syndrome inherited?

Bardet-Biedl syndrome has an autosomal recessive pattern of inheritance.[1] People with this syndrome have mutations in both copies of a gene associated with Bardet-Biedl syndrome. These people typically have unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier (i.e. have 2 normal copies of the gene). An affected individual's full siblings who do not have Bardet-Biedl syndrome have approximately a 66 % (2/3) chance of being a carrier for the condition. Autosomal recessive disorders are typically not seen in every generation of an affected family.
Last updated: 10/3/2011

References
  1. Waters AM, Beales PL. Bardet-Biedl Syndrome. GeneReviews. September 29, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1363/. Accessed 6/10/2013.