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

189 Citations (Scopus)

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 1 1994
Externally publishedYes

Fingerprint

Ectopia Lentis
Chromosomes, Human, Pair 15
Dominant Genes
Marfan Syndrome
Mutation
Phenotype
Fibrillins
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal marfan syndrome. / Kainulainen, Katariina; Karttunen, Leena; Puhakka, Lea; Sakai, Lynn; Peltonen, Leena.

In: Nature genetics, Vol. 6, No. 1, 01.01.1994, p. 64-69.

Research output: Contribution to journalArticle

Kainulainen, Katariina ; Karttunen, Leena ; Puhakka, Lea ; Sakai, Lynn ; Peltonen, Leena. / Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal marfan syndrome. In: Nature genetics. 1994 ; Vol. 6, No. 1. pp. 64-69.
@article{2cd3a5c443e64b16ad96629506cd8b0d,
title = "Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal marfan syndrome",
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.",
author = "Katariina Kainulainen and Leena Karttunen and Lea Puhakka and Lynn Sakai and Leena Peltonen",
year = "1994",
month = "1",
day = "1",
doi = "10.1038/ng0194-64",
language = "English (US)",
volume = "6",
pages = "64--69",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal marfan syndrome

AU - Kainulainen, Katariina

AU - Karttunen, Leena

AU - Puhakka, Lea

AU - Sakai, Lynn

AU - Peltonen, Leena

PY - 1994/1/1

Y1 - 1994/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0028335388&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028335388&partnerID=8YFLogxK

U2 - 10.1038/ng0194-64

DO - 10.1038/ng0194-64

M3 - Article

C2 - 8136837

AN - SCOPUS:0028335388

VL - 6

SP - 64

EP - 69

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 1

ER -