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首页> 外文期刊>Molecular syndromology >Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning
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Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning

机译：FBN1基因的新型Marfan综合征相关突变由亲本马赛克引起并导致异常的肢体模式

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摘要

Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1 (C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis. The involvement of this particular carboxi-terminal domain in bone morphogenetic protein signaling is evidenced by patterning defects in the apendicular skeleton shown by the gain of a phalange at digit 1 and the fusion of some wrist bones. Although the mutation appeared as sporadic, detailed analysis revealed that the asymptomatic father was a gonosomal mosaic, and that aproximately 25% of his body cells carry the mutation. Based on this and previous evidence on the origin of sporadic mutations, we would like to stress the importance of detailed parental genetic screening, so the risk of recurrence may be evaluated.
机译：Marfan综合征是由原纤维蛋白1（FBN1）基因突变引起的结缔组织常染色体显性遗传疾病。影响FBN1的表皮生长因子样钙结合结构域（EGF_CA）中的半胱氨酸残基的突变与马凡综合症特征有关，尤其是与lentectitis lentis有关。我们报告一种新颖的替代品，在表现出典型的马凡综合症特征但不伴有长盲样的患者中，影响由FBN1外显子63（C2571Y）编码的EGF_CA结合模块的第一个半胱氨酸。这种特定的羧基末端结构域参与了骨形态发生蛋白信号传导，这是通过在趾骨骨骼中形成图案缺陷来证明的，该缺陷由手指1处趾骨的增加和某些腕骨的融合所显示。尽管这种突变看起来是零星的，但详细的分析显示，无症状的父亲是一个淋巴小体马赛克，大约有25％的他的体细胞携带了这种突变。基于此和先前关于散发突变起源的证据，我们想强调详细的父母遗传学筛查的重要性，因此可以评估复发的风险。

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