What type of DNA mutation causes achondroplasia?

What type of DNA mutation causes 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.

What is the main cause of Achondroplastic dwarfism?

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 causes a person to become a dwarf?

Serious chronic illnesses may produce dwarfism as a side effect. Harsh environmental conditions, such as malnutrition, may also produce dwarfism. These types of dwarfism are indirect consequences of the generally unhealthy or malnourished condition of the individual, and not of any specific disease.

How are dwarfism and diastrophic dysplasia related to genetics?

Dwarfism Genetics. The gene mutation can occur spontaneously or can be inherited. Diastrophic dysplasia and usually spondyloepiphyseal dysplasias are inherited in a recessive manner. This means a child must receive two copies of the mutated gene — one from the mother, one from the father — to be affected.

Are there any signs or symptoms of dwarfism?

Signs and symptoms. However, there are syndromes which can affect the cranial structure and growth of the brain, severely impairing mental capacity. Unless the brain is directly affected by the underlying disorder, there is little to no chance of mental impairment that can be attributed to dwarfism.

How can I prevent my child from being born with dwarfism?

Prevention. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism.

Are there any diseases that are caused by dwarfism?

Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. Dwarfism itself is not a disease; however, there is a greater risk of some health problems.

Which is the gene that causes dominant dwarfism?

Dominant dwarfism is caused by a version of a gene called FGFR3. Like the rest of our genes, this one can come in lots of different versions (number 2 in our list). Most of these versions lead to average height but one causes dwarfism.

What causes a person to be a proportionate dwarf?

Proportionate dwarfism. So the head, trunk and limbs are all small, but they’re proportionate to each other. Because these disorders affect overall growth, many of them result in poor development of one or more body systems. Growth hormone deficiency is a relatively common cause of proportionate dwarfism.

How are dwarfism and achondroplasia related to genetics?

Dwarfism Genetics. Diastrophic dysplasia and usually spondyloepiphyseal dysplasias are inherited in a recessive manner. This means a child must receive two copies of the mutated gene — one from the mother, one from the father — to be affected. Achondroplasia, on the other hand, is inherited in a dominant manner.