HomeAnswersNephrologyalport syndromeMy aunt's son has X-linked Alport syndrome. What are the chances of my father and other family members getting affected?

Can X-linked Alport syndrome be inherited?

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Published At August 13, 2023
Reviewed AtAugust 13, 2023

Patient's Query

Hello doctor,

My aunt suffers from chronic kidney disease and has been on dialysis for the last year. Her son was recently diagnosed with X-linked Alport syndrome. What are the chances of my father and other family members getting affected?

Thank you.

Hello,

Thank you for stopping by!

I am here to provide expert opinions on your medical issues.

Alport is caused by mutations in the COL4A5 gene located on the X chromosome. Since X-linked Alport syndrome is inherited in an X-linked recessive pattern, the chances of your father and other family members being affected depend on their genetic makeup and family history.

Here are some general factors to consider:

1. Your father's risk: If your father carries a mutation in the COL4A5 gene, he may be at risk of developing X-linked Alport syndrome or being a carrier. If your aunt has the syndrome, it suggests that your paternal grandmother also carried the mutation, as X-linked conditions are passed from mother to son. Genetic testing can help determine if your father carries the mutation.

2. Risk for other family members: If your father is found to carry the mutation, there is a 50 % chance that he could pass it on to each of his children. It means each sibling has a 50 % chance of inheriting the mutation and being at risk for X-linked Alport syndrome.

It is important to note that even if your father does not carry the mutation, there could still be a chance of other family members being carriers. Females who inherit a mutation in one copy of the COL4A5 gene are usually carriers and may have a milder form of the condition or be asymptomatic. Males who inherit the mutation from their carrier mothers are more likely to experience the full symptoms of X-linked Alport syndrome.

Feel free to contact me for further queries.

Thank you.

Same symptoms don't mean you have the same problem. Consult a doctor now!

Dr. Kanani Darshan Jayantilal
Dr. Kanani Darshan Jayantilal

Family Physician

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