Biology 380: Biology of Childhood and Adolescence

Achondroplasia

Final Report

Carlos Ayala

April 20th, 2006

1. Symptoms of Achondroplasia
- Usually occurs in children
- Short stature
- Shortening of the arms and legs
- Large head with frontal bossing
- Short hands with stubby fingers
- Limitation of elbow extension
- Exaggerated lumbar lordosis, which develops when walking begins
- About 75% of patients with Achondroplasia represent new mutations.
- Affects one in every 25,000 births, and occurs in all races and in both
sexes.

2. Genetic Basis of Achondroplasia

a. Name of Gene: FGFR3 gene
b. Name of Protein encoded by the gene: FGFR3 PROTEIN
c. Proteins normal function: play a role in several important cellular functions
including the regulation of cell growth and division, determination of cell type,
formation of blood vessels, wound healing, and embryo development.
d. Molecular nature of mutations that cause the disease:
- Loss of Function
- Achondroplasia is caused by a mutation in the fibroblast growth factor
receptor-3 (FGFR-3) gene (3). Mutations which change the amino acid
glycine to arginine at position 380 of the FGFR-3 protein account for 97%
of all reported cases of Achondroplasia
- In more than 80% of cases, however, Achondroplasia is not inherited but
results from a new mutation that occurred in the egg or sperm cell formed
the embryo.

3. Inheritance of Achondroplasia
- Autosomal Dominant
- There is a 50% chance that an individual with Achondroplasia will pass the
mutant allele to its offspring (when only one parent has the disease).
- When both parents have Achondroplasia, the risk of their offspring having
normal stature is 25%; of having Achondroplasia, 50%, and of having a
homozygous Achondroplasia (a lethal condition) is 25%.

- Achondroplasia is caused by an abnormal gene located on one of the

chromosome 4 pair.

- There is no way to prevent the majority of cases of Achondroplasia, since these

Births result from totally unexpected gene mutations in unaffected parents.

4. Treatment
- There is no treatment, but several medical centers are using human growth
hormones for children with this disorder.
Achondroplasia