Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.
OBJECTIVE
To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis.


METHODS
twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family. Polymerase chain reaction (PCR) amplification and direct sequencing of all 65 coding exons of the fibrillin-1 gene (FBN1) were analyzed.


RESULTS
Mutation screening in FBN1 identified a T>C transition at nucleotide position c,1759 leading to substitution of Cysteine for Arginine at codon 587 (C587R). This nucleotide substitution was not seen in any unaffected member of the family.


CONCLUSIONS
We detected a novel mutation in FBN1. Our result expands the mutation spectrum of FBN1 and help in the study of the molecular pathogenesis of Marfan syndrome and Marfan-related diseases.
Department of Ophthalmology, West-China Hospital, Chengdu, China.
Chen
C
Liang
Wei
W
Fan
Sisi
S
Wu
Yi
Y
Liu
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D044466:Asian People; D001483:Base Sequence; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D004479:Ectopia Lentis / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005799:Genes, Dominant; D006801:Humans; D007908:Lens, Crystalline / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D054392:Adipokines
D001120:Arginine; D003545:Cysteine; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines