NYX mutations in four families with high myopia with or without CSNB1
| Autor: | Lin, Zhou, Tuo, Li, Xiusheng, Song, Yin, Li, Hongyan, Li, Handong, Dan |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Polymorphism Genetic Adolescent Base Sequence Molecular Sequence Data Eye Diseases Hereditary Genetic Diseases X-Linked eye diseases Pedigree Night Blindness Case-Control Studies Child Preschool Mutation Myopia Humans Family Proteoglycans Amino Acid Sequence Child Sequence Alignment Research Article |
| Zdroj: | Molecular Vision |
| ISSN: | 1090-0535 |
| Popis: | Purpose Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. In this study, we aimed to investigate the association between NYX mutations and high myopia with or without CSNB1. Methods Four Chinese families having high myopia with or without CSNB1 and 96 normal controls were recruited. We searched for mutations in the NYX gene using Sanger sequencing. Further analyses of the detected variations in the available family members were performed, and the frequencies of the detected variations in 96 normal controls were determined to verify our deduction. The effect of each variation on the nyctalopin protein was predicted using online tools. Results Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. Three of the four variants were novel (c.626G>C; c.121delG; c.335T>C). The previously identified variant, c.529_530delGCinsAT, was found in an isolated highly myopic patient and an affected brother, but the other affected brother did not carry the same variation. Further linkage analyses of this family showed a coinheritance of markers at MYP1. These four mutations were not identified in the 96 normal controls. Conclusions Our study expands the mutation spectrum of NYX for cases of high myopia with CSNB1; however, more evidence is needed to elucidate the pathogenic effects of NYX on isolated high myopia. |
| Databáze: | OpenAIRE |
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