Hello, Apologies for the delay in response. Please feel free to reach out to [email protected] with any questions and I'll be happy to provide as much information as I can. Regards, Alex

Hello! This is a great question! In all genetic conditions, there is a theoretical risk of germline mosaicism. Germline mosaicism is a mechanism of inherited disease and provides a possible explanation for the inheritance pattern in cases where multiple affected children are born to unaffected parents. Germline refers to cells that can pass DNA from one generation to the next (the eggs from a woman and the sperm from a man). Germline mosaicism means that some sperm or eggs have a gene mutation that may not be present in other tissues of the body (such as the blood, which is typically used for genetic testing). Depending on various factors, such as the gene involved and/or the degree of mosaicism, the carrier of a mosaic mutation may be asymptomatic or may present with various symptoms of the disease.

Thank you!