a novel deletion mutation of the tyr gene in a patient with oculocutaneous albinism type 1a

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.