导致显性晶状体异位和新生儿马凡综合征的原纤维蛋白基因突变。

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

作者信息

Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L

机构信息

Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.

出版信息

Nat Genet. 1994 Jan;6(1):64-9. doi: 10.1038/ng0194-64.

DOI:10.1038/ng0194-64

PMID:8136837

Abstract

Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus. We now describe ten novel mutations of FBN1 resulting in strikingly different phenotypes. In addition to classic MFS, FBN1 mutations also give rise to EL and a severe neonatal form of MFS. Interestingly, the neonatal MFS mutations are clustered in one particular region of FBN1, possibly providing new insights into genotype-phenotype comparisons.

摘要

已知15号染色体上原纤蛋白编码基因（FBN1）的突变会导致马凡综合征（MFS）。一种相关疾病——显性晶状体异位（EL），在遗传学上也与该基因座相关。我们现在描述了FBN1的十个新突变，这些突变导致了截然不同的表型。除了典型的MFS，FBN1突变还会引发EL和一种严重的新生儿型MFS。有趣的是，新生儿型MFS突变集中在FBN1的一个特定区域，这可能为基因型 - 表型比较提供新的见解。