The genetic testing report indicates autosomal recessive inheritance, raising concerns about its potential impact on the next generation?
A family member of advanced age is expected to undergo egg donation.
Genetic testing has revealed that one party has Krabbe disease (Globoid Cell Leukodystrophy), with the gene (GALC) showing a variant at c.1901T>C (p.Leu634Ser) located at 14q31.3.
The carrier frequency is 1 in 158, and the risk of the offspring being affected after testing is 1 in 63,200.
This condition is inherited in an autosomal recessive manner.
When discussing the report with the family, I explained that since only one party is a carrier of the recessive gene, the baby born will not be affected and will be a normal baby (however, there is a 50% chance that the baby will be a carrier and a 50% chance that the baby will not be a carrier).
If there are concerns, the baby's future spouse can undergo genetic testing to avoid the same genetic abnormality, thus preventing the birth of an affected child.
Given the difficulty in finding a suitable egg donor, the opportunity is rare, but the genetic test results raise concerns about the potential impact on the next generation.
If we were to change donors, it is uncertain how long we would have to wait again.
Even if we find another donor, there is a possibility that the testing could reveal another rare genetic disease (as they explained that on average, each person has more than two genetic abnormalities).
The waiting period and re-testing could be time-consuming.
I want to agree to proceed but am worried about the impact on the next generation.
I searched online for information and found that I could ask questions, and I hope to get some clarification.
Thank you very much.
Yihuo Zhe, 60~69 year old female. Ask Date: 2024/03/27
Dr. Jian Yingxiu reply Rare Disease
Hello: Your understanding is very accurate.
In principle, carriers of recessive genes do not exhibit symptoms; they only have the potential to pass these genes on to their offspring.
Every individual carries multiple recessive genetic variations.
It is important to note that if the partner has the same recessive gene variation associated with a particular disease, there is a 25% chance that the offspring will express symptoms (be affected by the disease).
Reply Date: 2024/03/27
More Info
Understanding the implications of genetic testing, particularly in the context of Krabbe disease (Globoid Cell Leukodystrophy), is crucial for prospective parents considering egg donation. Krabbe disease is an autosomal recessive disorder caused by mutations in the GALC gene, which is responsible for the production of an enzyme necessary for the breakdown of certain lipids in the brain. The mutation you mentioned, c.1901T>C (p.Leu634Ser), is one of the known variants associated with this condition.
In your case, since only one parent is a carrier of the recessive gene, the child will not manifest the disease. However, there is a 50% chance that the child will inherit the carrier status, meaning they could pass the gene to their offspring in the future. This is a critical point to communicate to your family, as understanding the inheritance pattern can alleviate some concerns.
The carrier frequency of 1 in 158 indicates that while Krabbe disease is relatively rare, it is not uncommon for individuals to carry recessive mutations without being aware of it. This is a reminder that many people carry multiple recessive gene mutations, which is why comprehensive genetic counseling is recommended for couples considering starting a family, especially when one partner is a known carrier of a genetic condition.
If you are particularly concerned about the potential for your child to inherit other genetic conditions, you might consider further genetic counseling. This could involve testing the egg donor for a broader panel of genetic conditions, which may help identify any additional risks. However, as you noted, the process of finding a suitable donor and undergoing testing can be time-consuming and may lead to delays.
It’s also worth noting that while the current donor may carry a mutation for Krabbe disease, it is possible that future donors could carry different mutations. Genetic testing can only provide information based on the specific genes tested, and as you mentioned, many individuals carry multiple genetic variants. Therefore, it is essential to weigh the risks and benefits of proceeding with the current donor versus waiting for another potential donor.
In terms of your child’s future, if they are a carrier of the Krabbe mutation, it would be prudent for them to consider genetic testing for their partners when they reach reproductive age. This proactive approach can help prevent the possibility of having children affected by Krabbe disease or other recessive genetic disorders.
In conclusion, while the current genetic testing indicates a low risk for your child to be affected by Krabbe disease, the potential for carrier status exists. Engaging in thorough discussions with a genetic counselor can provide clarity and help you make informed decisions regarding egg donation and family planning. It’s essential to balance the emotional aspects of this journey with the scientific understanding of genetic inheritance to ensure the best outcomes for your future family.
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