Background and Aim: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin and reduction of iris pigments are the main manifestations of this disease. Also, exposure to sunlight increases the susceptibility of these patients to skin cancer. The aim of this study was to investigate the genetic cause of a person with Oculocutaneous Albinism by the whole exome sequencing.

Materials and methods:  6cc peripheral blood sample was obtained from a child with oculocutaneous Albinism with autosomal recessive inheritance pattern, DNA extraction and whole exome sequencing was performed. After analyzing the exome sequencing data, the pathogenic mutation was identified. Then, Sanger sequencing method was used to confirm and segregation.

Ethical considerations: This study was approved by Arak University of Medical Sciences (code IR.ARAKMU.REC.1403.273). Ethical principles have been followed in accordance with the guidelines of the National Ethics Committee and COPE regulations.

Findings: The affected case showed homozygous pathogenic mutation (NM_000372.5):c.286dupA p.(Met96AsnfsTer73) in exon 1 of TYR gene. Oculocutaneous albinism IA was determined according to the mutated gene. Also, the parents of the affected person were heterozygous for the mutation.

Conclusion: Conclusion: By using the high efficiency whole exome sequencing method and then confirming the mutation through Sanger sequencing, the mutation causing oculocutaneous albinism was identified in the affected person. Considering the consanguineous marriage of the parents, this finding can be used for preventive measures in the future.