What are the causes of Achondroplasia?

April 22 22:47 2019 Print This Article

It is mainly caused by the mutation in the fibroblast growth factor receptor gene which is also known as the FGFR3. It helps in the making of protein and helps in the development of cartilage. It changes the cartilage into bone. The mutation in the gene disturbs the structure of cartilage and does not allow changing into the bone. The mutated form is active and forms many short bones. The condition is autosomal dominant and the people with this disorder have one normal copy of the genes mentioned above and one mutant copy of gene. If there are two mutant copies of the gene it can prove fatal before and after the birth. The one copy of the gene must be present to make this disorder happen.

So, in short one can say that the individual with this disorder have a half chance of passing the gene to their off springs. There are 50 percent chances of the child to be suffering from his disorder. If both the individuals in a couple have this condition there is a one by four chance that the child may die immediately after the birth and half a chance that the child will have this disorder and one fourth of the chance that the child is having an normal phenotype. In most of the cases the children born with these conditions have normal parents.

This occurs due to the new mutation. These new age mutations are associated with the increased age of patients. It is more than 35 year old. These mutations are inherited from the parent father during the process of spermatogenesis. The mutation is hindered by the regulatory mechanism present in the oogenesis. It occurs in the females. Most of the cases of this disorder are caused due to the different mutation in the fibroblast growth factor receptor gene which is also known as the FGFR3. In majority of the cases glycine is changed with the arginine. There is a G to A mutation in the nucleotide 1138. In very few cases there is a G to C mutation in the nucleotide 1138.

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