Is achondroplasia a mutation or chromosomal abnormality?

Is achondroplasia a mutation or chromosomal abnormality?

Achondroplasia is the most commonly occurring abnormality of bone growth (skeletal dysplasia), occurring in approximately 1 in 20,000-30,000 live births. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 (FGFR3) gene.

What type of genetic disorder is achondroplasia?

Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from new mutations in the FGFR3 gene.

What chromosome is achondroplasia on?

Although this condition can be inherited in an autosomal dominant manner, 80% of cases are due to new, sporadic mutations. Mutations involve the gene encoding fibroblast growth factor receptor 3 (FGFR3), situated on chromosome 4.

What type of point mutation is achondroplasia?

Achondroplasia comes from the genetic point mutations in the fibroblastic growth factor receptor 3 gene (FGFR3), which enables abnormal cartilage growth-plate differentiation and insufficient bony development.

What happens to the body when you have achondroplasia?

People with achondroplasia commonly have breathing problems in which breathing stops or slows down for short periods (apnea). Other health issues include obesity and recurrent ear infections. Adults with achondroplasia may develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs.

What is the function of chromosome 4?

Chromosome 4 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

How is achondroplasia caused by a genetic mutation?

General Discussion. This genetic disorder is caused by a change (mutation) in the fibroblast growth factor receptor 3 ( FGFR3) gene. Achondroplasia occurs as a result of a spontaneous genetic mutation in approximately 80 percent of patients; in the remaining 20 percent it is inherited from a parent.

What are the signs and symptoms of achondroplasia?

People who have achondroplasia have abnormal bone growth that causes the following clinical symptoms: short stature with disproportionately short arms and legs, short fingers, a large head (macrocephaly) and specific facial features with a prominent forehead (frontal bossing) and mid-face hypoplasia.

Is the FGFR3 gene responsible for achondroplasia?

However, most cases of achondroplasia are the result of a new mutation in the FGFR3 gene, over 80 per cent of people with achondroplasia have parents who are unaffected. The FGFR3 gene encodes the instructions for making a protein? called fibroblast growth factor receptor 3 (FGFR3).

Is the risk of achondroplasia the same for males and females?

The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females. Achondroplasia appears to affect males and females in equal numbers.