Article
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.
Molecular vision - 25 Oct 2007
Vanita Vanita, Singh Jai Rup, Singh Daljit, Varon Raymonda, Robinson Peter N, Sperling Karl
Abstract excerpt
PURPOSE: To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations. METHODS: Detailed family history and clinical data were recorded for 48 family members including 24 persons with isolated ectopia lentis. Candidate gene regions at 5q and 15q known to be linked with ectopia lentis were analyzed using fluorescent labeled microsatellite...
Topics
- Adult
- Amino Acid Substitution
- Arginine
- Child
- Codon
- Cysteine
- Cytosine
- Ectopia Lentis
- Female
- Fibrillin-1
- Fibrillins
- Genes, Dominant
- Genetic Linkage
- Genotype
- Haplotypes
- Heterozygote
- Humans
- India