Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing

Genet Mol Res. 2016 Sep 19;15(3). doi: 10.4238/gmr.15038743.


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.

Publication types

  • Case Reports

MeSH terms

  • Albinism / genetics*
  • Antigens, Neoplasm / genetics*
  • Antigens, Neoplasm / metabolism
  • China
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Variation
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Infant
  • Membrane Transport Proteins / genetics*
  • Membrane Transport Proteins / metabolism
  • Mutation
  • Pedigree
  • Polymorphism, Single Nucleotide


  • Antigens, Neoplasm
  • Membrane Transport Proteins
  • SLC45A2 protein, human