A Novel Deletion Mutation of the TYR Gene in a Patient With Oculocutaneous Albinism Type 1A

Abstract

Introduction: Oculocutaneous albinism (OCA) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. Case Presentation: In the present study, in order to verify OCA type 1A in a patient with clinical symptoms, and to study the variations of the TYR gene for the first time in southwest Iran, this gene was entirely sequenced. Conclusions: A novel homozygous mutation, the deletion of exons 1 - 5 on the TYR gene, was found on the molecular genetic testing of this patient. Exon 1 - 5 deletion on TYR causes a lack of the tyrosinase enzyme and disturbs the melanin biosynthesis process.