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首页> 外文期刊>Journal of pediatric genetics >A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome
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A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

机译：重度早期马凡氏综合征的复发性原纤维蛋白-1突变

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摘要

The recurrent substitution of isoleucine for threonine at codon 1048 (I1048T) substitution has been linked to severe, early onset Marfan syndrome, however, the existence of strong genotype-phenotype associations in Marfan syndrome (MFS) is not widely agreed upon. Our aim is to substantiate the association between the I1048T substitution and a severe clinical presentation to facilitate care planning and genetic counseling. We review the clinical findings from seven cases of early-onset MFS with a recurrent I1048T substitution. The presented findings include those from one newly diagnosed case, significant new detail from three additional cases, and a review of published findings in three cases. All seven individuals with the I1048T substitution had mitral insufficiency, arachnodactyly and characteristic facies consistent with early-onset MFS. Our findings support the existence of a genotype-phenotype correlation between the I1048T substitution and early-onset MFS. Recognition of this relationship has implications for genetic counseling and clinical care. Additionally, exploration of how the I1048T substitution results in a severe phenotype may lead to further insight into the pathophysiology of MFS.
机译：苏氨酸在1048密码子（I1048T）替代处的异亮氨酸的反复替代与严重的，早期发作的马凡氏综合症有关，但是，关于马凡氏综合症（MFS）中强基因型-表型关联的存在尚未得到广泛认可。我们的目的是证实I1048T替代与严重临床表现之间的关联，以促进护理计划和遗传咨询。我们回顾了7例复发性I1048T替代的早期MFS的临床发现。提出的发现包括来自一个新诊断病例的发现，来自其他三个病例的重要新细节以及对三个案例中已发表发现的综述。所有用I1048T替代的7个人均具有二尖瓣关闭不全，蛛网膜缺损和特征相，与早期MFS一致。我们的发现支持I1048T替代与早发MFS之间存在基因型与表型的相关性。对这种关系的认识对遗传咨询和临床护理具有影响。此外，探索I1048T取代如何导致严重的表型可能会导致对MFS的病理生理学有进一步的了解。

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