How common is the Achondrogenesis?

How common is the Achondrogenesis?

Achondrogenesis is very rare. Types 1A and 1B are so rare that researchers do not know the prevalence. Type 2 occurs in around 1 in 40,000 to 1 in 60,000 newborns. The disorder is equally common in males and females.

What gene is affected by Achondrogenesis?

Achondrogenesis type 1B is the most severe of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone.

Can Achondrogenesis be treated?

Treatment of achondrogenesis is symptomatic and supportive and involves palliative care, in which physicians attempt to reduce or minimize pain, stress and specific symptoms associated with the disorder. Genetic counseling is recommended for families with an affected child.

What organelle is affected by Achondrogenesis Type 1A?

Achondrogenesis type 1A is caused by a defect in the microtubules of the Golgi apparatus. In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in defects similar to the human disease.

Is Achondrogenesis inherited?

Achondrogenesis type 1A and type 1B are believed to be inherited in an autosomal recessive pattern. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell .

How is Achondrogenesis passed on?

Achondrogenesis is inherited, which means it is passed down through families. Some types are known to be recessive, meaning both parents carry the defective gene. The chance for a subsequent child to be affected is 25%.

What does the TRIP11 gene do?

The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210). This protein is found in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions.

What is the prognosis of Achondrogenesis?

Outlook (Prognosis) The outcome is most often very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.