Mutation analysis in a pedigree with oculocutaneous albinism

Abstract

Objective To investigate gene mutations in a pedigree with oculocutaneous albinism by using targeted next-generation sequencing technology. Methods Clinical data were collected from a pedigree with oculocutaneous albinism. Genomic DNA was extracted from peripheral blood cells of the proband and his parents. High-throughput sequencing technology was used for sequence analysis of coding regions in exons of 29 genes including TYR, OCA2, TYRP1 and SLC45A2 in the proband to find potential pathogenic gene mutations. Sanger sequencing was conducted to detect the corresponding genetic loci in the parents. Results Two heterozygous mutations were identified in the TYR gene of the proband, including a novel mutation c.534G > C (p.Trp178Cys) and a known mutation c.1147G > A (p.Asp383Asn) . The detection of the TYR gene mutations in the parents of the proband showed that the c.534G > C and c.1147G > A mutations in the proband were inherited from his father and mother respectively. Conclusion A novel pathogenic mutation c.534G > C in the TYR gene is identified in the pedigree with oculocutaneous albinism by using targeted next-generation sequencing technology. Key words: Albinism, oculocutaneous; Genotyping techniques; Mutation; Prenatal diagnosis