Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing
| Autor: | Xue Jf, Guo Yy, Ouyang N, Xue Hq, Liu Y, Xue Jj |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
China SLC45A2 Albinism DNA Mutational Analysis Single-nucleotide polymorphism Polymorphism Single Nucleotide DNA sequencing 03 medical and health sciences symbols.namesake Antigens Neoplasm Genetics medicine Humans Missense mutation Molecular Biology Gene Sanger sequencing biology Genetic Variation High-Throughput Nucleotide Sequencing Infant Membrane Transport Proteins General Medicine medicine.disease Pedigree 030104 developmental biology Mutation Mutation (genetic algorithm) biology.protein symbols Female |
| Zdroj: | Genetics and Molecular Research. 15 |
| ISSN: | 1676-5680 |
| Popis: | Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genetic variants, including 19 known single nucleotide polymorphisms, one novel missense mutation (c.1456 G>A), and one disease-causing mutation (c.478 G>C). The novel mutation was not observed in 100 controls, and was predicted to be a damaging mutation by SIFT and Polyphen. Thus, we identified a novel mutation in SLC45A2 in a Chinese family, expanding the mutational spectrum of albinism. Our results also demonstrate that targeted next-generation sequencing is an effective genetic test for albinism. |
| Databáze: | OpenAIRE |
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