海外マルファン情報

米国マルファン症候群患者団体The Marfan Foundationからの情報を中心に、マルファン症候群や関連疾患についての海外情報を翻訳して発信します。

遺伝子

SMAD2遺伝子単体の遺伝子検査は推奨されるか?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:06:12-1:12:10 So last question because we're running up on time and this is actually a question I've been struggling with as well. Knowing that testing p…

変異型の多様性を生み出す要因は?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…

遺伝子変異はいつ起きる?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 52:30-55:52 Can the mutation happen anytime in life or is it from birth only? I have a son with LDS2 and a healthy older daughter. My son is de novo so the…

TGFBR1遺伝子内のVUSは病原性か?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-52:27 This is a tough one. I'm trying to figure out. I don't think it's answerable but what are, what are statistical chances for VUS within TGFBR1 g…

LDS患者である親と子どものLDS型が異なることはあるか?

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…

全エクソームシーケンス解析が有益と考えられるケースは?

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 42:38-46:43 So just curious Dr. Dietz, your thoughts on like who makes a good candidate for moving forward with whole exome or what kind of family like if …

ロイス・ディーツ症候群の遺伝学 ~Biglycan~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 31:27-33:00 So there was one last question about what's new in terms of genetic aortopathies and I was just gonna touch briefly on one kind of syndromic ne…

ロイス・ディーツ症候群の遺伝学 ~重篤な病態を引き起こす変異~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 29:59-31:25 In our cohort just a word on two specific variants that we've seen that present with very aggressive childhood disease. 我々が研究対象としてい…

ロイス・ディーツ症候群の遺伝学 ~TGF-βシグナル伝達経路上の原因遺伝子~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 19:35-21:18 So in terms of Loeys-Dietz syndrome you might all be familiar with the TGF-beta signaling pathway. This is the pathway where Loeys-Dietz gene d…

ロイス・ディーツ症候群の遺伝学 ~常染色体優性遺伝とデノボ変異~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 18:48-19:24 So Loeys-Dietz syndrome is an autosomal dominant condition, which means that any person that has a gene change in one of Loeys-Dietz genes each…

ロイス・ディーツ症候群の遺伝学 ~遺伝子検査結果の分類~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 16:57-18:44 So whenever we do a genetic test there can be three answers that we get: it could be clearly negative so sometimes variants are found that are …

ロイス・ディーツ症候群の遺伝学 ~遺伝子と結合組織疾患~

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …

マルファン症候群をはじめから ~遺伝子検査~

Marfan Syndrome Management: Back to Basic 7:23-8:15 So what about genetic testing? So, you know, historically we, not everyone got genetic testing. You could just look at someone and say, "Well, I think they probably have Marfan syndrome,"…

マルファン症候群をはじめから ~遺伝子~

Marfan Syndrome Management: Back to Basic 5:41-7:22 So I'm just showing genetics over here just showing a gene or a, a chromosome. If you guys remember from school we all we have 46 of these chromosomes that sit here. There's 23 pairs of c…

リスクと生きる ~大動脈疾患に関わる遺伝子および気胸に関連する疾患~

Living with Risk 28:32-30:17 Here's a patient who has vEDS and Loeys-Dietz, VUS. So this is a not exactly a disease-causing mutation has had a pneumothorax and so what imaging does this person need. vEDSとLoeys-Dietz症候群両方の遺伝子検査…

リスクと生きる ~原因遺伝子からわかること~

Living with Risk 23:53-25:39 So then, there's another question. "What advice can you offer for sharing new diagnostic, diagnostic information with other family members who have not been tested but may be similarly affected..." 「遺伝子検査…

マルファン関連疾患児の発達障害・行動障害・学習障害 ~遺伝子と環境~

Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 8:10-10:50 Okay, so along those lines let's talk about some important concepts about genes, environment and what we call G x E or that's genes by environment interaction. では…

ロイス・ディーツ症候群と生きる ~LDSのタイプ分布と重症度~

Living a Life with LDS (September 12, 2020) E3 Summit 21:38-24:36 What about the distribution of the occurrence of those genes? ではLDSのタイプ分布を見てみましょう。 The most common one is is still TGF-beta receptor 2, which is about half …

ロイス・ディーツ症候群と生きる ~特定されている原因遺伝子~

Living a Life with LDS (September 12, 2020) E3 Summit 19:03-19:54 So overall we do have now at least five established genes. Receptor 1, receptor 2, SMAD3, TGF-beta 2 and 3. これまでの研究から、LDSの原因遺伝子として少なくとも5種類(TGFBR1…

ロイス・ディーツ症候群と生きる ~ロイス・ディーツ症候群の分類~

Living a Life with LDS (September 12, 2020) E3 Summit 14:48-18:05 So soon after we described it clinically we identified the TGF beta receptors as the causal genes, which we published in 2005. As you can see here on the figure the TGF beta…

結合組織疾患の大動脈基部手術について ~関連遺伝子~

Aortic Root Surgery in Connective Tissue Conditions - Surgery Series (2/10/21) 13:38-15:52 So we know that thoracic aortic disease is commonly familial. You everyone in this audience, I'm sure, knows a lot about Marfan, Loeys-Dietz, Ehlers…

遺伝子検査とマルファン症候群

はじめに マルファン症候群の遺伝のしくみ 遺伝子検査の方法 遺伝子検査が推奨されるケース マルファン症候群の遺伝子検査における制約 マルファン症候群の関連疾患 まとめ はじめに フィブリリン-1(FBN1)やその他の遺伝子の変異を調べる遺伝子検査は、マ…