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

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...

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Bibliographic Details
Published in:Genetics and molecular research 2016-09, Vol.15 (3)
Main Authors: Xue, J J, Xue, J F, Xue, H Q, Guo, Y Y, Liu, Y, Ouyang, N
Format: Article
Language:English
Subjects:
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
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Summary: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.
ISSN:1676-5680
1676-5680
DOI:10.4238/gmr.15038743