Albinism

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

J. J. Xue, Xue, J. F., Xue, H. Q., Guo, Y. Y., Liu, Y., Ouyang, N., Xue, J. J., Xue, J. F., Xue, H. Q., Guo, Y. Y., Liu, Y., and Ouyang, N., Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing, vol. 15. p. -, 2016.

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).

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