MUTATIONS IN THE FIBRILLIN GENE RESPONSIBLE FOR DOMINANT ECTOPIA LENTIS AND NEONATAL MARFAN-SYNDROME

Citation
K. Kainulainen et al., MUTATIONS IN THE FIBRILLIN GENE RESPONSIBLE FOR DOMINANT ECTOPIA LENTIS AND NEONATAL MARFAN-SYNDROME, Nature genetics, 6(1), 1994, pp. 64-69
Citations number
39
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
10614036
Volume
6
Issue
1
Year of publication
1994
Pages
64 - 69
Database
ISI
SICI code
1061-4036(1994)6:1<64:MITFGR>2.0.ZU;2-I
Abstract
Mutations in the gene coding for fibrillin on chromosome 15 (FBN1) are known to cause Marfan syndrome (MFS). A related disorder, dominant ec topia lentis (EL), has also been linked genetically to this locus. We now describe ten novel mutations of FBN1 resulting in strikingly diffe rent phenotypes. In addition to classic MFS, FBN1 mutations also give rise to EL and a severe neonatal form of MFS. Interestingly, the neona tal MFS mutations are clustered in one particular region of FBN1, poss ibly providing new insights into genotype-phenotype comparisons.