MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family

摘要

Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin, and eyes. Hypopigmentation or complete lack of pigmentation is caused by an enzyme deficiency involving the production, metabolism, or distribution of melanin. The genetic abnormalities may affect the synthesis of melanin and lead to albinism. Generally two types of melanin, brown/black eumelanin and yellow/red pheomelanin are produced by cutaneous and ocular melanocytes [1] and synthesis of both types are controlled, to a large extent, by the melanocortin-1 receptor (MC1R) on the melanocyte [2].