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

Katariina Kainulainen, Leena Karttunen, Lea Puhakka, Lynn Sakai, Leena Peltonen

Research output: Contribution to journalArticle

194 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)64-69
Number of pages6
JournalNature genetics
Volume6
Issue number1
DOIs
StatePublished - Jan 1994

ASJC Scopus subject areas

  • Genetics

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