Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent
| ISSN: | 1057-0829 |
|---|---|
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3d57793e25bd158e5dc50deb3487ec8 https://pubmed.ncbi.nlm.nih.gov/18303389 |
| Přírůstkové číslo: | edsair.doi.dedup.....f3d57793e25bd158e5dc50deb3487ec8 |
| Autor: | Rodolfo A. Perez-Grossmann, Julia E. Richards, Enrique Vargas, Alejandro Estrada-Cuzcano, Ricardo Fujita, Maria Luisa Guevara-Fujita, Hemant Pawar |
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male medicine.medical_specialty genetic structures Adolescent Sequence analysis DNA Mutational Analysis Context (language use) Trabeculectomy Polymerase Chain Reaction Polymorphism Single Nucleotide Exon Polymorphism (computer science) Recurrence Ophthalmology Peru Medicine Coding region Humans Point Mutation Eye Proteins Myocilin Intraocular Pressure Aged Glycoproteins Genetics Electrophoresis Agar Gel business.industry Point mutation Indians South American Sequence Analysis DNA Middle Aged eye diseases Pedigree Cytoskeletal Proteins Mutation (genetic algorithm) Female sense organs business Glaucoma Open-Angle |
| Zdroj: | Journal of glaucoma. 17(1) |
| ISSN: | 1057-0829 |
| Popis: | Purpose To search for MYOC mutations in Peruvian primary open angle glaucoma (POAG) families. Patients and methods Two patients from each of the 11 POAG Peruvian families were screened for sequence variants in MYOC coding exons by conformational sensitive gel electrophoresis and sequencing was performed on the samples indicating probable sequence changes. Results We detected 2 families bearing distortions of conformational sensitive gel electrophoresis indicating mutations. Sequencing of these samples revealed coding sequence changes. A native Andean descent family presented with a MYOC mutation, Asn480Lys (C-->G at nucleotide 1440). This is different from the previously reported C-->A change at nucleotide 1440 that causes Asn480Lys in 2 unrelated French and Dutch families with glaucoma of variable expressivity, and indicates a third independent event. A second family of admixed origin showed the presence of the known Arg76Lys polymorphism. Conclusions In the study of MYOC variants in 11 POAG Peruvian families, we have found a family of ethnically admixed origin with polymorphism Arg76Lys and a family of Andean descent bearing a third event of the Asn480Lys, the MYOC mutation that has been reported in the highest number of POAG patients (>80 cases). Analysis of this family could contribute with information about disease manifestation, progression, and treatment response in the context of a distinct genetic background and also climatic, altitude, and socioeconomical conditions. |
| Databáze: | OpenAIRE |
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