Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma

International Journal of Molecular Medicine
Fengyun WangJiping Li

Abstract

Glaucoma is known to induce visual impairment and blindness. The aim of the present study was to determine the clinical and genetic findings of a family with primary open-angle glaucoma (POAG). A family diagnosed with glaucoma was examined clinically and followed up for five years. Genomic DNA was extracted from the venous blood of 12 family members, and of 100 healthy individuals. The mode of inheritance was determined by the pedigree analysis. The third exon and its flanking introns of myocilin (MYOC) were amplified, and quantitative polymerase chain reaction (qPCR) products were sequenced. The restriction fragment length polymorphism analysis was performed on samples from the 12 family members and 100 normal controls. The predicted effects of the detected variants on the secondary structure of the MYOC protein were analyzed by the Garnier-Osguthorpe-Robson method. In this family, three members were diagnosed with POAG, and one member with ocular hypertension. The mode of inheritance of the family was autosomal dominant with six members being genetically affected. The heterozygous mutation was identified in the third exon of MYOC that revealed a T → C transition at position 1021 (p.S341P), which switched serine (Ser) to proli...Continue Reading

References

Jan 31, 1997·Science·E M StoneV C Sheffield
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Jan 5, 2002·American Journal of Human Genetics·Andrea L VincentElise Héon
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Oct 30, 2007·Human Mutation·Alex W HewittJamie E Craig

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Citations

Nov 30, 2018·International Journal of Molecular Medicine·Hongwei WangYong Ji

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Methods Mentioned

BETA
electrophoresis
PCR

Software Mentioned

- - Robson ( GOR )
Garnier
Primer3

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