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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Buschke Ollendorff syndrome


Other Names for this Disease
  • BOS
  • Dermatofibrosis lenticularis disseminata with osteopoikilosis
  • Dermatofibrosis, disseminated with osteopoikilosis
  • Dermatoosteopoikilosis
  • Osteopathia condensans disseminata
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Inheritance


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How is Buschke Ollendorff syndrome inherited?

Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner.[1] This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child  to not inherit the mutated gene.

It has been proposed that the inheritance of BOS shows incomplete penetrance.[2] Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a person’s family medical history and predict the risk of passing a genetic condition to future generations.[3] This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.
Last updated: 6/6/2011

References
  1. Cassandra L. Kniffin et al. BUSCHKE-OLLENDORFF SYNDROME; BOS. OMIM. June 2, 2010; http://www.ncbi.nlm.nih.gov/omim/166700. Accessed 3/16/2011.
  2. Lukasz Matusiak, Grazyna Szybejko-Machaj, Jacek C Szepietowski. Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome). eMedicine. August 16, 2010; http://emedicine.medscape.com/article/1117654-overview. Accessed 3/16/2011.
  3. What are reduced penetrance and variable expressivity?. Genetics Home Reference. March 13, 2011; http://ghr.nlm.nih.gov/handbook/inheritance/penetranceexpressivity.