p.Ala546 > Asp and p.Arg555 > Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I
| Autor: | Ping Yu, Rongrong Hu, Yuehong Yang, Lili Chen, Xiaoyi Yan, Ming Qi, Yang-shun Gu, Fan Jin |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Adolescent DNA Mutational Analysis Mutation Missense Biology Young Adult Exon chemistry.chemical_compound Asian People Transforming Growth Factor beta medicine Humans Missense mutation Family Gene Genetics (clinical) Aged Aged 80 and over Corneal Dystrophies Hereditary Genetics Aspartic Acid Extracellular Matrix Proteins Tryptophan Middle Aged medicine.disease Penetrance Molecular biology Pedigree Granular corneal dystrophy Amino Acid Substitution chemistry Case-Control Studies Female Age of onset DNA TGFBI |
| Zdroj: | Genetic Testing. 12:421-425 |
| ISSN: | 1557-7473 1090-6576 |
| DOI: | 10.1089/gte.2008.0005 |
| Popis: | The aim of this study was to conduct clinical, genetic, and molecular analysis of Chinese patients with granular corneal dystrophy type I (CDGG1). Two large unrelated Chinese families with CDGG1 were clinically and genetically evaluated. Molecular genetic analysis was performed on DNA extracted from peripheral blood. Exons 4, 11, 12, and 14 of the human transforming growth factor beta-induced gene (TGFBI, formerly designated BIGH3) were amplified by PCR, scanned for mutations using the single-strand conformation polymorphism method, and the mutations identified by nucleotide sequencing. One family segregated the p.Ala546Asp mutation, and the other family had a p.Arg555Trp mutation. These missense mutations were not found in 53 unrelated, healthy individuals analyzed as controls. Clinical and genetic evaluations revealed the variable severity, symmetry, and age of onset in visual impairment in these families for different mutations. Penetrance of visual impairment in these families was 100% and 75%, respectively. This study confirms that the p.Arg555Trp mutation is a frequent cause of CDGG1, and that the p.Ala546Asp mutation is also associated with this disease. |
| Databáze: | OpenAIRE |
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