Norrie Disease is a rare genetic disorder that primarily affects males. It is caused by mutations in the NDP gene, which is located on the X chromosome. As a result, Norrie Disease is inherited in an X-linked recessive pattern. This means that the gene mutation is passed down from carrier mothers to their sons. Females who carry the mutation have a 50% chance of passing it on to their sons. It is important to consult with a genetic counselor for personalized information and guidance.
Is Norrie Disease hereditary?
Yes, Norrie Disease is a hereditary condition that is passed down through families. It is an X-linked genetic disorder, which means that the gene mutation responsible for the disease is located on the X chromosome.
Since males have one X and one Y chromosome, a single copy of the mutated gene is enough to cause Norrie Disease in males. As a result, males are typically more severely affected by the condition than females. Females, on the other hand, have two X chromosomes, so they usually have one normal copy of the gene to compensate for the mutated copy.
The mutated gene can be inherited from a carrier mother who has one copy of the gene. If a carrier mother has a son, there is a 50% chance that he will inherit the mutated gene and develop Norrie Disease. If a carrier mother has a daughter, there is a 50% chance that she will also be a carrier of the gene.
It is important for individuals with a family history of Norrie Disease to seek genetic counseling to understand the risks and options available. Genetic testing can help identify carriers and provide information for family planning decisions.