title: Case Report Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing.
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.
authors.affiliation: Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China xuejinjiesxsfy@126.com.
authors.forename: J J
authors.initials: JJ
authors.lastname: Xue
authors.affiliation: Yuncheng Central Hospital, Yuncheng, Shanxi, China.
authors.forename: J F
authors.initials: JF
authors.lastname: Xue
authors.affiliation: Children's Hospital of Shanxi, Women Health Center of Shanxi, Taiyuan, Shanxi, China.
authors.forename: H Q
authors.initials: HQ
authors.lastname: Xue
authors.affiliation: Beijing Genomics Institute at Shenzhen, Shenzhen, China.
authors.forename: Y Y
authors.initials: YY
authors.lastname: Guo
authors.affiliation: Beijing Genomics Institute at Shenzhen, Shenzhen, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Women Health Center of Pingxiang, Pingxiang, Jiangxi, China.
authors.forename: N
authors.initials: N
authors.lastname: Ouyang
mesh_terms: D000417:Albinism / Q000235:genetics*; D000951:Antigens, Neoplasm / Q000235:genetics* / Q000378:metabolism; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D007223:Infant; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human