RESUMO

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.

Assuntos

Albinismo/genética , Antígenos de Neoplasias/genética , Proteínas de Membrana Transportadoras/genética , Antígenos de Neoplasias/metabolismo , China , Análise Mutacional de DNA/métodos , Feminino , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Lactente , Proteínas de Membrana Transportadoras/metabolismo , Mutação , Linhagem , Polimorfismo de Nucleotídeo Único