Bones Home > Cause of Achondroplasia

The cause of achondroplasia can be categorized into two possibilities. The first cause has to do with mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Or, the cause of achondroplasia can be inherited in an autosomal dominant pattern in which a parent with the condition can pass the gene to his or her children.

Cause of Achondroplasia: An Overview

There are two possible causes of achondroplasia. One possible cause is a genetic mutation of the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4. Achondroplasia can also be inherited from a parent with the condition.

Genetic Mutation as a Cause of Achondroplasia

Most people with achondroplasia have average-size parents, which means that the cause of achondroplasia is from a new mutation in the FGFR3 gene. Scientists do not know why this mutation occurs.

Inherited Cause of Achondroplasia

Achondroplasia can also be inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, one of the parents with achondroplasia passes on the FGFR3 gene to the child.
If one parent has achondroplasia, children have a 50 percent chance of inheriting the FGFR3 gene. If both parents have it, children have a one in four chance of inheriting the gene from both parents. Newborns who inherit both genes are considered to have a severe form of achondroplasia, where survival is usually less than 12 months after birth.

Genetics as a Cause of Achondroplasia

Although achondroplasia can be inherited, 80 percent of all cases are the cause of a sporadic mutation involving the gene encoding FGFR3, situated on chromosome 4.
The protein made by the FGFR3 gene is a receptor that regulates bone growth by limiting the formation of bone from cartilage (a process called ossification), particularly in the long bones. Researchers believe that mutations in the FGFR3 gene cause the receptor to be overly active, which interferes with ossification and leads to the disturbances in bone growth seen with this disorder.
This theory is supported by the knockout mouse model in which the receptor is absent; therefore, the negative regulation of bone formation is lost. The result is a mouse with excessively long bones and elongated vertebrae, resulting in a long tail. Achondroplastic mouse models are useful tools in developing potential treatments.
(Click Achondroplasia Genetics for more information about the link between achondroplasia and genetics.)
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Last reviewed by: Arthur Schoenstadt, MD
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