What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020)
46:47-48:22
Can a parent with one type of Loeys-Dietz syndrome, perhaps type four, pass down a different type of LDS to their kids?
MacCarrick:
親のLDS型と子どものLDS型が異なることはあるのでしょうか？
So the way that the different types of Loeys-Dietz syndrome are defined is by virtue of what gene is involved. So let's say that a parent has Loeys-Dietz syndrome and they have a mutation in the TGFBR2 gene, so they would be classified as having Loeys-Dietz syndrome type 2. The variant that they're at risk to pass to their child at a 50 percent risk of passing to their child is that TGFBR2 variant. If their child did, did inherit that they also would have Loeys-Dietz syndrome type 2, so in order for the child to have a different type of Loeys-Dietz syndrome they either would have had to inherit a mutation in a different Loeys-Dietz syndrome gene from the other parent or they'd have to have a new mutation in a Loeys-Dietz gene and both of those situations are remarkably unlikely I can't say that it could never happen but it's really unlikely to happen.
Dietz:
LDSの型は原因遺伝子によって決まります。親の原因遺伝子がTGFBR2（LDS2型）だとすると、子どもがこの親から50%の確率で受け継ぐリスクのある遺伝子変異は、やはりTGFBR2です。子どもが別の型のLDSを発症するとなると、もう片方の親からTGFBR2以外の原因遺伝子を受け継ぐか、新規発症以外に考えられません。ですが、これらの状況は絶対に起こらないとは断言できないものの、やはり非常に確率は低いといえます。
So by and large people in the same family with Loeys-Dietz syndrome syndrome will have the same type of Loeys-Dietz syndrome that doesn't mean it'll look exactly the same but it would still be classified as the same type.
Dietz:
全体的にみると、同一家系でLDSを発症した場合は同じ型になります。必ずしも外見的な特徴が似るわけではありませんが、分類される型は同じになります。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
