X-LINKED RETINOSCHISIS
| Autor: | Tamara R. Vrabec, Arcilee Frost, Avinash Tantri, Kimberly A. Neely, Joseph W. Sassani, David Y Kim, Larry A. Donoso |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Retinoschisis Genetic counseling DNA Mutational Analysis Visual Acuity Codon Initiator Eukaryotic translation Start codon Humans Point Mutation Medicine Missense mutation Eye Proteins Transversion Gene Genetics business.industry Point mutation General Medicine Middle Aged Pedigree Ophthalmology Mutation (genetic algorithm) business Tomography Optical Coherence Follow-Up Studies |
| Zdroj: | Retina. 26:940-946 |
| ISSN: | 0275-004X |
| Popis: | PURPOSE To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis. METHODS Genealogic investigation and mutation screening of the XLRS1 gene were performed for a 4-generation family consisting of 72 members. Affected males were evaluated clinically between 1986 and 2004 with up to 18 years of follow-up. RESULTS We identified a novel point mutation (1A>T transversion) in the initiation codon of the XLRS1 gene in affected males resulting in an amino acid substitution of methionine to leucine (Met1Leu), therefore abolishing the translation initiation Met codon. CONCLUSION Identification of the disease-causing mutation in this family with long-term follow-up allows for earlier and more accurate identification of individuals at risk for this inherited progressive macular degeneration, provides for more accurate genetic counseling, and contributes to our understanding of the pathophysiology of this disorder. |
| Databáze: | OpenAIRE |
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