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

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

Author information

1
Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China xuejinjiesxsfy@126.com.
2
Yuncheng Central Hospital, Yuncheng, Shanxi, China.
3
Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China.
4
Beijing Genomics Institute at Shenzhen, Shenzhen, China.
5
Women Health Center of Pingxiang, Pingxiang, Jiangxi, China.

Abstract

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.

PMID:
27706749
DOI:
10.4238/gmr.15038743
[Indexed for MEDLINE]

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