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Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.

[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family].

[Article in Chinese]

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Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Eye Research Center of Chinese Academy of Medical Sciences, Beijing 100730, China.



To identify the mutation gene of a Chinese family with ectopia lentis.


Clinical observation and pedigree analysis were undertaken in a family with ectopia lentis. Venous blood was drawn from 7 affected and 3 unaffected subjects. Genomic DNA was extracted. Linkage to the fibrillin 1 (FBN1) locus was not excluded. Mutation of this gene was screened by PCR of FBN1 exons and direct sequencing. PCR and restrictive endonuclease digestion were applied for population study.


A missense mutation G640A in exon six of FBN1 gene was identified in affected patients of this Chinese family. The correspond amino acid change was Gly214Ser. Restrictive endonuclease site Eag I was eliminated. This mutation was not found in unaffected family members of this family nor it was found among 50 unrelated normal controls.


A novel mutation of FBN1 gene with Glycine to Serine change is responsible for the ectopia lentis patients in a Chinese family.

[Indexed for MEDLINE]

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