Genomic coordinate 9:12,693,385
Here I present: “Oculocutaneous Albinism“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (OCA3) icd10=E70.328
INTRODUCTION.
Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven (7) types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorder.
There is evidence evidence that oculocutaneous albinism type-3 (OCA3) is caused by homozygous or compound heterozygous mutation in tyrosinase-related protein type-1 (TYRP1) on cytogenetic location 9p23 and genomic coordinate 9:12,693,385.
