Beukes familial hip dysplasia

What is the genetic cause of Beukes hip dysplasia (BHD)?

Beukes hip dysplasia (BHD) is caused by a change or mutation in one copy of the UFSP2 gene. Genes come in pairs (one copy from each parent) and are the blueprints or code for making proteins . Since only one copy of the UFSP2 gene is mutated, some normal UFSP2 protein is made using the other copy of the gene, just not enough. Now that the gene which causes BHD is known, medical researchers are studying how the decreased amount of the UFSP2 protein causes the degeneration of the hip joint.

Last updated on 05-01-20

How is Beukes hip dysplasia (BHD) inherited?

Beukes hip dysplasia (BHD) is inherited (runs in families) in an autosomal dominant manner. This means that having a change (mutation ) in only one copy of the responsible gene in each cell is enough to cause the symptoms of the condition. However, not everyone who inherits the mutation in the UFSP2 gene develops problems in their hip joint. This called incomplete penetrance. About 80% of the people who inherit the mutation in the UFSP2 gene will develop symptoms of BHD.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. But since the condition has incomplete penetrance and there is a range in severity of symptoms, it is difficult to predict how the mutation in the UFSP2 gene will affect a person's life.

Last updated on 05-01-20

Name: International Hip Dysplasia Institute 1222 S. Orange Ave., 5th Floor
Orlando, FL, 32806 , United States
Fax : (321) 843-5298 Email: http://www.hipdysplasia.org/about/contact/ Url: http://www.hipdysplasia.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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