title: Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
abstract: Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus is a 6-year-old boy with bilateral superior-temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent criteria for Marfan syndrome. Molecular genetic testing revealed c.1948 C>T (p.Arg650Cys) in FBN1. The mother has visual acuity of 20/20 with -4.50 right eye and -2.50 left eye. She has no evidence of ectopia lentis. DNA analysis revealed that she has the same FBN1 mutation. Seven other maternal family members also have ectopia lentis. In conclusion, we report on a case of early-onset autosomal dominant isolated ectopia lentis caused by FBN1 mutation that has previously been reported only in Marfan syndrome. The child's mother presumably represents a rare case of nonpenetrance.
authors.affiliation: Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.|Department of Ophthalmology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, P. R. China.
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.|Department of Ophthalmology, Kaohsiung Medical University Hospital; Department of Ophthalmology, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Yu-Hung
authors.initials: YH
authors.lastname: Lai
authors.affiliation: Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.
authors.forename: Jenina E
authors.initials: JE
authors.lastname: Capasso
authors.affiliation: Department of Ophthalmology, Robert Wood Johnson University Hospital, New Brunswick, New Jersey.
authors.forename: Stella
authors.initials: S
authors.lastname: Han
authors.affiliation: Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania.|Thomas Jefferson University, Philadelphia, Pennsylvania.
authors.forename: Alex V
authors.initials: AV
authors.lastname: Levin
mesh_terms: D000328:Adult; D017668:Age of Onset; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004479:Ectopia Lentis / Q000235:genetics* / Q000473:pathology; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: FBN1; Marfan syndrome; ectopia lentis