Achondroplasia (cont.)

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What gene causes achondroplasia?

Achondroplasia is caused by mutations in the FGFR3 gene which codes for a protein (fibroblast growth factor receptor 3) that is important for the maintenance of bone and brain tissues. Two specific mutations in this gene are responsible for almost all cases of achondroplasia. These mutations limit the process of ossification, or the formation of bone from cartilage. The FGFR3 gene is located on the short (p) arm of chromosome 4 in chromosome band 4p16.3.

REFERENCES:

Genetics Home Reference. Achondroplasia.

Genetic and Rare Diseases Information Center (GARD). Achondroplasia. NIH Office of Rare Diseases Research.

Medscape. Achondroplasia.

PubMedHealth. Achondroplasia.


Medically Reviewed by a Doctor on 8/19/2014

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