Severe Marfan syndrome due to FBN1 exon deletions
Severe Marfan syndrome due to FBN1 exon deletions
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DOI：
10.1002/ajmg.a.32229
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发表时间：
2008-05-15
影响因子：
2
通讯作者：
Bunyan, David
中科院分区：
文献类型：
--
作者：
Blyth, Moira;Foulds, Nicola;Bunyan, David
马凡氏综合征是一种常染色体显性遗传病，主要表现在骨骼、眼部和心血管系统。这种疾病是由纤维蛋白1基因（FBN1）突变引起的。其中大多数是家族特异性的点突变，预计有一小部分会导致外显子跳变。到目前为止，只有5篇关于FBN1框架内外显子缺失的报道，其中最大的缺失跨越了三个外显子。镶嵌现象很少有记录，只在未受影响或轻度受影响的先证者父母中有报道。在这里，我们报告了两个儿童的临床病史与外显子缺失的FBN1。他们都有严重的马凡氏综合症，在婴儿期有明显的症状。一名患者有33号外显子缺失，这在以前没有报道过。另一个具有最大的缺失，跨越37个外显子，并且也代表了马凡氏综合征患者中首次报道的镶嵌现象。(C) 2008 Wiley-Liss, Inc。
Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, Ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin-1 gene (FBN1). The majority of these are family-specific point mutations, with a small number being predicted to cause exon-skipping. To date, there have only been five reports of in-frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrome. (C) 2008 Wiley-Liss, Inc.