Distal arthrogryposis syndrome Health Article

Genetic profile

Distal arthrogryposis syndrome is inherited in an autosomal dominant manner. Autosomal dominant inheritance patterns only require one genetic mutation on one of the chromosome pairs to exhibit symptoms of the disease. Chromosomes are the structures that carry genes. Genes are the blueprints for who we are and what we look like. Humans have 23 pairs, or 46 total chromosomes in every cell of their body. The first 22 chromosomes are numbered 1–22 and are called autosomes. The remaining pair is assigned a letter either an X or a Y and are the sex determining chromosomes. A typical male is described as 46, XY. A typical female is 46, XX.

Each parent contributes one of their paired chromosomes to their children. Before fertilization occurs, the father's sperm cell divides in half and the total number of chromosomes reduces from 46 to 23. The mother's egg cell undergoes the same type of reduction as well. At the time of conception, each parent contributes 23 chromosomes, one of each pair, to their children. All of the genetic information is contained on each chromosome.

If either the father or the mother is affected with distal arthrogryposis, there is a 50% chance they will pass on the chromosome with the gene for this disease to each of their children. The specific gene for distal arthrogryposis is not known, however we do know that it is located on chromosome number 9.

The symptoms of distal arthrogryposis can be different between two affected relatives. For example, a mother may have contractures in all of her joints, but her child may only be affected with contractures in the hands. Because of this variability in the symptoms of this disease, it is believed there is more than one gene mutation that causes distal arthrogryposis. As of 2001, the only gene thought to cause this disease is on chromosome number 9. The exact location and type of genetic mutation on chromosome 9 is not known and therefore, the only genetic testing available as of 2001 is research based.