Why There is a 50/50 Chance of Inheriting HLRCC
In this video we discuss how HLRCC is passed on through families. Topics covered include autosomal dominance, alleles, disease penetrance and variable effectivity, and we show examples of all possible genetic outcomes using punnet squares.
Correction: I have edited out a small portion in the original video. I misspoke about the association of Lys477dup mutation and FD. What I should have said is people with the FH mutation Lys477dup often don't have symptoms of HLRCC . However, if they have a child with someone with another HLRCC variant - their children can potentially have FD.
To be clear, the autosomal recessive disorder FH deficiency can be a very disabling disease, often leading to early mortality (perinatal death - young adult). FD has a very large severity range and there is a lot of parent knowledge in the special group Families Fighting Fumarase Deficiency https://www.facebook.com/groups/1518811055057363
Articles about Short Creek Community and FH Deficiency.
https://www.bbc.com/future/art....icle/20170726-the-po
https://www.deseret.com/2006/2..../9/19937275/birth-de
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