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In achondroplasia, where is the mutation found?

In achondroplasia, where is the mutation found?

FGFR3 gene

Diagnosis/testing. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals who may be too young to diagnose with certainty or in individuals with atypical findings, molecular genetic testing can be used to detect a mutation in the FGFR3 gene. Such testing detects mutations in 99% of affected individuals and is available in clinical laboratories.

If you mean on the gene sequence?

Fibroblast growth factor receptor gene 3 (FGFR3, which is responsible for cartilage formation) is where the mutation occurs, and it is dominant. It also occurs on only one pair, so heterozygous = dwarfism.

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