ArticleMolecular vision2012
A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Journal of human genetics · 2025Article
- Genotype variant screening and phenotypic analysis ofMolecular medicine reports · 2021Article
- Novel p.G1344E mutation inThe British journal of ophthalmology · 2021Article
- A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.Eye (London, England) · 2020Article
- A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.Journal of pediatric genetics · 2018Article
- A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.International journal of ophthalmology · 2015Article
- Molecular pathogenesis and management strategies of ectopia lentis.Eye (London, England) · 2014Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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Abstract
purposeTo identify the genetic defect in an autosomal dominant isolated ectopia lentis (EL) family.
methodsDetailed family history and clinical data were collected from the family including sixteen patients with isolated EL. Blood samples of nine patients, one normal person and two unknown children's were collected. Genomic DNA was extracted from leukocytes of peripheral blood. Genotyping was performed by microsatellite markers and logarithm-of-odds (LOD) scores were calculated using the LINKAGE Programs. Mutation screening in the candidate gene, fibrillin-1 (FBN1), was performed by direct sequencing.
resultsLinkage to the FBN1 locus is verified. Mutation screening in FBN1 identified a C>T transition at nucleotide position c.2920. This nucleotide change results in the cysteine substitution for highly conserved arginine at codon 974 (p.R974C). This mutation is identified in all affected individuals but is not found in 50 control healthy people.
conclusionsA novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family.
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Identifiers
22539873PMC3335778W1608477007What OpenQuestion holds
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