Causes of Achondroplasia

Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia.

Source: NHGRI (NIH)1

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Cause

Achondroplasia is caused by mutations in the FGFR3 gene.[1, 2] This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.[1] Last updated: 1/26/2016

Source: GARD (NIH)2

Causes List for Achondroplasia

Some of the possible causes of Achondroplasia or similar disorders may include:3

... Full Causes List for Achondroplasia »

Genetics of Achondroplasia

Most people who have achondroplasia have average-size parents. In this situation, the FGFR3 gene mutation occurs in one parent's egg or sperm cell before conception. Other people with achondroplasia inherit the condition from a parent who has achondroplasia. Source ...4

... More on Genetics »

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References

  1. Source: NHGRI (NIH): genome.gov/ 19517823/ learning-about-achondroplasia/ 
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 8173/ achondroplasia
  3. Source: Algorithmically Generated List
  4. Source: NHGRI (NIH): genome.gov/ 19517823/ learning-about-achondroplasia/ 

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