家族性蜘蛛指症中纤连蛋白基因（FBN1）的一种新突变。
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
作者信息
Hayward C, Porteous M E, Brock D J
机构信息
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
出版信息
Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045.
PMID:7870075
Abstract
Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly.
摘要
已知原纤维蛋白基因（FBN1）的突变会导致典型的马凡氏综合征、晶状体异位和新生儿马凡氏综合征。我们在FBN1基因第28外显子中鉴定出一种新的错义突变（R1170H），该突变导致了一种以细长指和蜘蛛指为特征的非典型类马凡氏表型。
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