Both the father and mother of a child have to carry a mutation in the ASPA gene in order for the child to inherit Canavan disease. If both parents are carriers, each naturally conceived child has a 25% chance of having Canavan. Although most common in people of Ashkenazi Jewish descent, there are upwards of 70 mutations of the gene that have been identified so far, and they can occur in individuals from any ethnic background.
Canavan disease is not a sex-linked genetic disorder. It is an autosomal recessive disorder, meaning that both parents must pass on a copy of the mutated gene in order for an individual to inherit the disease.
Yes, Canavan disease is an inherited genetic disorder caused by mutations in the ASPA gene. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.
Canavan disease is named after Dr. Myrtelle Canavan
Dr. Myrtelle Canavan
Canavan disease is also called aspartoacylase deficiency
It was not until 1949, that Canavan disease was recognized as a unique genetic disease by Van Bogaert and Betrand
People with Canavan disease typically have disproportionately large heads
Some people with Canavan disease may eventually become blind
DNA testing is the only means of identifying carriers of Canavan disease
I was doing a presentation on Canavan Disease and had a lot of trouble finding wether it was dominant or recessive. I found the answer and thought i should make it easier for others. Canavan Disease is recessive
Most infants with Canavan disease appear normal for the first month of life
People of Saudi Arabian descent also have a relatively high risk of Canavan disease