Bardet-Biedl Syndrome

Inheritance

How is Bardet-Biedl Syndrome inherited?

Bardet-Biedl syndrome is most often inherited in an autosomal recessive fashion. Typical humans have 23 pairs of chromosomes, receiving one chromosome (containing many genes) of each pair from each parent (for a total of 46). Autosomal recessive conditions affect individuals with a mutation in both copies of a gene pair. For a person to have Bardet-Biedl syndrome, she must have a mutation in both copies of the gene. A person with a mutation in only one gene is called a carrier: while she is not affected by Bardet-Biedl syndrome, she can pass the mutation to her children. For each pregnancy with two carriers as parents, there is a 25% chance of having a child with Bardet-Biedl syndrome, a 50% chance of having a child who is also a carrier, and a 25% of having a child who is neither a carrier nor affected by Bardet-Biedl syndrome.

References
  • http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome
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What does it mean to have inherited a "variant" in the gene for Bardet-Biedl Syndrome?

What does it mean to have inherited a "variant" in the gene for Bardet-Biedl Syndrome?

Bardet-Biedl syndrome is typically diagnosed clinically. Genetic testing is used both to supplement an unclear clinical presentation and for family planning. If an individual is clinically diagnosed with Bardet-Biedl syndrome and afterward receives a variant of uncertain significance on their genetic test, she is not freed from her diagnosis—she should still be treated for Bardet-Biedl syndrome. However, the discussion about family planning may be unclear because the providers are not sure if the variant is causing Bardet-Biedl syndrome or if there is a different cause not picked up by the test (about 20-30% of people with Bardet-Biedl syndrome have negative genetic testing). Testing other family members may be recommended to help determine whether or not the variant appears disease-causing. Some reported cases of Bardet-Biedl syndrome involve three mutations rather than the usual two, which is called triallelic.

References
  • http://rarediseases.org/rare-diseases/bardet-biedl-syndrome/
  • https://www.labcorp.com/wps/wcm/connect/IntGeneticsLib/integratedgenetics/resources/diseases/bardet-biedl+syndrome?Bardet-Biedl%20Syndrome,%20BSS1-related

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