An Introduction to the Causes of Achondroplasia
There are two possible causes of
achondroplasia. One possible cause is a genetic mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4. Achondroplasia can also be inherited from a parent with the condition.
Genetic Mutations That Cause 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.
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 achondroplasia, 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.
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