Mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene (above) have been linked to achondroplasia, or dwarfism. Sperm analysis shows that mutations associated with dwarfism gradually increased by about two per cent for every year of age.
Persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.
How it's Inherited
If one copy of the Achondroplasia gene is present in each cell then the chances of being born with it is inevitable (that the gene is dominant). FGFR3 is the gene that is responsible for instructing the production of protein that's involved in the development and maintenance of bone and brain tissue. Research has provided us with the idea that two specific mutations cause the protein to be overly active, which interferes with skull and development and leads to the disturbances in bone growth.
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