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

Authors: Sui, Rui-fang  Wei, Hong-bin  Zhao, Jia-liang  Hu, Shao-yi  Wang, Bo  Huang, Shang-zhi  Dong, Ming 
Citation: Sui RF, etal., Zhonghua Yan Ke Za Zhi. 2004 Dec;40(12):828-31.
Pubmed: (View Article at PubMed) PMID:15733436

OBJECTIVE: To identify the mutation gene of a Chinese family with ectopia lentis.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: A novel mutation of FBN1 gene with Glycine to Serine change is responsible for the ectopia lentis patients in a Chinese family.


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CRRD Object Information
CRRD ID: 12910140
Created: 2017-06-13
Species: All species
Last Modified: 2017-06-13
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.