A Novel Variant Lattice Corneal Dystrophy Caused by Association of Mutation (V625D) in TGFBI Gene
| Autor: | Yan Zhang, Wei Wang, Xin Tian, Akira Murakami, Zhizhong Ma, Atsushi Kanai, Keiko Fujiki, Qin Li, Yan-sheng Hao |
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| Rok vydání: | 2007 |
| Předmět: |
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Proband Mutation Missense Visual Acuity Biology Polymerase Chain Reaction law.invention Cornea chemistry.chemical_compound Exon Transforming Growth Factor beta law TGFBI gene medicine Humans Polymerase chain reaction Genes Dominant Corneal Dystrophies Hereditary Genetics Extracellular Matrix Proteins Exons Middle Aged medicine.disease eye diseases Pedigree Molecular analysis Ophthalmology Family member chemistry Lattice corneal dystrophy Female DNA |
| Zdroj: | American Journal of Ophthalmology. 144:473-475 |
| ISSN: | 0002-9394 |
| DOI: | 10.1016/j.ajo.2007.04.015 |
| Popis: | Purpose To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy. Design Case report and experimental study. Methods Molecular genetic analysis was performed on the DNA extracted from peripheral leucocytes from a Chinese family with atypical lattice corneal dystrophy. Fifty normal unrelated subjects of Chinese origin were used as controls. All exons of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced. Results Bilateral, symmetrical, ridgy round pattern of opacities with uneven surfaces and thin lattice lines were noted in the proband. Analysis of exon 14 revealed a heterozygous T to A transition on codon 625. The mutation was not detected in the unaffected family member and 50 unaffected individuals. Conclusions The novel TGFBI gene mutation (V625D) is associated with an early-onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions. |
| Databáze: | OpenAIRE |
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